SNP Links for Protein (Select 807201141) - SNP

Links from Protein

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Select item 14901021621.

rs1490102162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:150727697 (GRCh38)
X:149896169 (GRCh37)
Canonical SPDI:: NC_000023.11:150727696:T:A
Gene:: MTMR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150727697T>A, NC_000023.10:g.149896169T>A, NG_012551.1:g.39301T>A, NM_003828.5:c.437T>A, NM_003828.4:c.437T>A, NM_003828.3:c.437T>A, NM_003828.2:c.437T>A, NM_001306144.3:c.461T>A, NM_001306144.2:c.461T>A, NM_001306144.1:c.461T>A, NR_148676.3:n.572T>A, NR_148676.2:n.572T>A, NR_148676.1:n.604T>A, NM_001353990.2:c.488T>A, NM_001353990.1:c.488T>A, NM_001306145.2:c.437T>A, NM_001306145.1:c.437T>A, NM_001353992.1:c.155T>A, NM_001353994.1:c.155T>A, NM_001353991.1:c.155T>A, NM_001353993.1:c.155T>A, NM_001353995.1:c.155T>A, NM_001353996.1:c.155T>A, NW_004070890.2:g.6252094T>A, XM_005274765.4:c.539T>A, XM_005274765.3:c.539T>A, XM_005274765.2:c.539T>A, XM_005274765.1:c.539T>A, XM_005274766.4:c.488T>A, XM_005274766.3:c.488T>A, XM_005274766.2:c.488T>A, XM_005274766.1:c.488T>A, XM_006724855.4:c.437T>A, XM_006724855.3:c.437T>A, XM_006724855.2:c.437T>A, XM_006724855.1:c.437T>A, XM_011531210.3:c.539T>A, XM_011531210.2:c.539T>A, XM_011531210.1:c.539T>A, XM_017029921.2:c.155T>A, XM_017029921.1:c.155T>A, XM_017029923.2:c.98T>A, XM_017029923.1:c.98T>A, XM_017029924.2:c.488T>A, XM_017029924.1:c.488T>A, XM_047442604.1:c.437T>A, XM_047442605.1:c.155T>A, NM_176789.1:c.437T>A, XR_007068204.1:n.596T>A, NP_003819.1:p.Ile146Asn, NP_001293073.1:p.Ile154Asn, NP_001340919.1:p.Ile163Asn, NP_001293074.1:p.Ile146Asn, NP_001340921.1:p.Ile52Asn, NP_001340923.1:p.Ile52Asn, NP_001340920.1:p.Ile52Asn, NP_001340922.1:p.Ile52Asn, NP_001340924.1:p.Ile52Asn, NP_001340925.1:p.Ile52Asn, XP_005274822.1:p.Ile180Asn, XP_005274823.1:p.Ile163Asn, XP_006724918.1:p.Ile146Asn, XP_011529512.1:p.Ile180Asn, XP_016885410.1:p.Ile52Asn, XP_016885412.1:p.Ile33Asn, XP_016885413.1:p.Ile163Asn, XP_047298560.1:p.Ile146Asn, XP_047298561.1:p.Ile52Asn

Select item 14864392522.

rs1486439252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150732576 (GRCh38)
X:149901048 (GRCh37)
Canonical SPDI:: NC_000023.11:150732575:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150732576C>T, NC_000023.10:g.149901048C>T, NG_012551.1:g.44180C>T, NM_003828.5:c.902C>T, NM_003828.4:c.902C>T, NM_003828.3:c.902C>T, NM_003828.2:c.902C>T, NM_001306144.3:c.926C>T, NM_001306144.2:c.926C>T, NM_001306144.1:c.926C>T, NR_148676.3:n.1037C>T, NR_148676.2:n.1037C>T, NR_148676.1:n.1069C>T, NM_001353990.2:c.953C>T, NM_001353990.1:c.953C>T, NM_001306145.2:c.902C>T, NM_001306145.1:c.902C>T, NM_001353992.1:c.620C>T, NM_001353994.1:c.620C>T, NM_001353991.1:c.620C>T, NM_001353993.1:c.620C>T, NM_001353995.1:c.620C>T, NM_001353996.1:c.620C>T, NW_004070890.2:g.6256973C>T, XM_005274765.4:c.1004C>T, XM_005274765.3:c.1004C>T, XM_005274765.2:c.1004C>T, XM_005274765.1:c.1004C>T, XM_005274766.4:c.953C>T, XM_005274766.3:c.953C>T, XM_005274766.2:c.953C>T, XM_005274766.1:c.953C>T, XM_006724855.4:c.902C>T, XM_006724855.3:c.902C>T, XM_006724855.2:c.902C>T, XM_006724855.1:c.902C>T, XM_011531210.3:c.1004C>T, XM_011531210.2:c.1004C>T, XM_011531210.1:c.1004C>T, XM_017029921.2:c.620C>T, XM_017029921.1:c.620C>T, XM_017029923.2:c.563C>T, XM_017029923.1:c.563C>T, XM_017029924.2:c.953C>T, XM_017029924.1:c.953C>T, XM_047442604.1:c.902C>T, XM_047442605.1:c.620C>T, NM_176789.1:c.902C>T, XR_007068204.1:n.1061C>T, NP_003819.1:p.Thr301Met, NP_001293073.1:p.Thr309Met, NP_001340919.1:p.Thr318Met, NP_001293074.1:p.Thr301Met, NP_001340921.1:p.Thr207Met, NP_001340923.1:p.Thr207Met, NP_001340920.1:p.Thr207Met, NP_001340922.1:p.Thr207Met, NP_001340924.1:p.Thr207Met, NP_001340925.1:p.Thr207Met, XP_005274822.1:p.Thr335Met, XP_005274823.1:p.Thr318Met, XP_006724918.1:p.Thr301Met, XP_011529512.1:p.Thr335Met, XP_016885410.1:p.Thr207Met, XP_016885412.1:p.Thr188Met, XP_016885413.1:p.Thr318Met, XP_047298560.1:p.Thr301Met, XP_047298561.1:p.Thr207Met

Select item 14768229443.

rs1476822944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150693544 (GRCh38)
X:149862017 (GRCh37)
Canonical SPDI:: NC_000023.11:150693543:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.150693544C>T, NW_004070890.2:g.6217942C>T, NG_012551.1:g.5149C>T, NM_003828.5:c.14C>T, NM_003828.4:c.14C>T, NM_003828.3:c.14C>T, NM_003828.2:c.14C>T, NM_001306144.3:c.14C>T, NM_001306144.2:c.14C>T, NM_001306144.1:c.14C>T, NR_148676.3:n.149C>T, NR_148676.2:n.149C>T, NR_148676.1:n.181C>T, NM_001353990.2:c.14C>T, NM_001353990.1:c.14C>T, NM_001306145.2:c.14C>T, NM_001306145.1:c.14C>T, NC_000023.10:g.149862017C>T, XM_005274765.4:c.14C>T, XM_005274765.3:c.14C>T, XM_005274765.2:c.14C>T, XM_005274765.1:c.14C>T, XM_005274766.4:c.14C>T, XM_005274766.3:c.14C>T, XM_005274766.2:c.14C>T, XM_005274766.1:c.14C>T, XM_006724855.4:c.14C>T, XM_006724855.3:c.14C>T, XM_006724855.2:c.14C>T, XM_006724855.1:c.14C>T, XM_011531210.3:c.14C>T, XM_011531210.2:c.14C>T, XM_011531210.1:c.14C>T, XM_017029924.2:c.14C>T, XM_017029924.1:c.14C>T, XM_047442604.1:c.14C>T, NM_176789.1:c.14C>T, XR_007068204.1:n.149C>T, NP_003819.1:p.Ala5Val, NP_001293073.1:p.Ala5Val, NP_001340919.1:p.Ala5Val, NP_001293074.1:p.Ala5Val, XP_005274822.1:p.Ala5Val, XP_005274823.1:p.Ala5Val, XP_006724918.1:p.Ala5Val, XP_011529512.1:p.Ala5Val, XP_016885413.1:p.Ala5Val, XP_047298560.1:p.Ala5Val

Select item 14685032414.

rs1468503241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150727688 (GRCh38)
X:149896160 (GRCh37)
Canonical SPDI:: NC_000023.11:150727687:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.150727688C>T, NC_000023.10:g.149896160C>T, NG_012551.1:g.39292C>T, NM_003828.5:c.428C>T, NM_003828.4:c.428C>T, NM_003828.3:c.428C>T, NM_003828.2:c.428C>T, NM_001306144.3:c.452C>T, NM_001306144.2:c.452C>T, NM_001306144.1:c.452C>T, NR_148676.3:n.563C>T, NR_148676.2:n.563C>T, NR_148676.1:n.595C>T, NM_001353990.2:c.479C>T, NM_001353990.1:c.479C>T, NM_001306145.2:c.428C>T, NM_001306145.1:c.428C>T, NM_001353992.1:c.146C>T, NM_001353994.1:c.146C>T, NM_001353991.1:c.146C>T, NM_001353993.1:c.146C>T, NM_001353995.1:c.146C>T, NM_001353996.1:c.146C>T, NW_004070890.2:g.6252085C>T, XM_005274765.4:c.530C>T, XM_005274765.3:c.530C>T, XM_005274765.2:c.530C>T, XM_005274765.1:c.530C>T, XM_005274766.4:c.479C>T, XM_005274766.3:c.479C>T, XM_005274766.2:c.479C>T, XM_005274766.1:c.479C>T, XM_006724855.4:c.428C>T, XM_006724855.3:c.428C>T, XM_006724855.2:c.428C>T, XM_006724855.1:c.428C>T, XM_011531210.3:c.530C>T, XM_011531210.2:c.530C>T, XM_011531210.1:c.530C>T, XM_017029921.2:c.146C>T, XM_017029921.1:c.146C>T, XM_017029923.2:c.89C>T, XM_017029923.1:c.89C>T, XM_017029924.2:c.479C>T, XM_017029924.1:c.479C>T, XM_047442604.1:c.428C>T, XM_047442605.1:c.146C>T, NM_176789.1:c.428C>T, XR_007068204.1:n.587C>T, NP_003819.1:p.Pro143Leu, NP_001293073.1:p.Pro151Leu, NP_001340919.1:p.Pro160Leu, NP_001293074.1:p.Pro143Leu, NP_001340921.1:p.Pro49Leu, NP_001340923.1:p.Pro49Leu, NP_001340920.1:p.Pro49Leu, NP_001340922.1:p.Pro49Leu, NP_001340924.1:p.Pro49Leu, NP_001340925.1:p.Pro49Leu, XP_005274822.1:p.Pro177Leu, XP_005274823.1:p.Pro160Leu, XP_006724918.1:p.Pro143Leu, XP_011529512.1:p.Pro177Leu, XP_016885410.1:p.Pro49Leu, XP_016885412.1:p.Pro30Leu, XP_016885413.1:p.Pro160Leu, XP_047298560.1:p.Pro143Leu, XP_047298561.1:p.Pro49Leu

Select item 14656853985.

rs1465685398 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCGGGGGC>- [Show Flanks]
Chromosome:: X:150693573 (GRCh38)
X:149862046 (GRCh37)
Canonical SPDI:: NC_000023.11:150693568:GGGCGGCGGGGGC:GGGC
Gene:: MTMR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGC=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.00005/5 (GnomAD)
HGVS:: NC_000023.11:g.150693573_150693581del, NW_004070890.2:g.6217971_6217979del, NG_012551.1:g.5178_5186del, NM_003828.5:c.43_51del, NM_003828.4:c.43_51del, NM_003828.3:c.43_51del, NM_003828.2:c.43_51del, NM_001306144.3:c.43_51del, NM_001306144.2:c.43_51del, NM_001306144.1:c.43_51del, NR_148676.3:n.178_186del, NR_148676.2:n.178_186del, NR_148676.1:n.210_218del, NM_001353990.2:c.43_51del, NM_001353990.1:c.43_51del, NM_001306145.2:c.43_51del, NM_001306145.1:c.43_51del, NC_000023.10:g.149862046_149862054del, XM_005274765.4:c.43_51del, XM_005274765.3:c.43_51del, XM_005274765.2:c.43_51del, XM_005274765.1:c.43_51del, XM_005274766.4:c.43_51del, XM_005274766.3:c.43_51del, XM_005274766.2:c.43_51del, XM_005274766.1:c.43_51del, XM_006724855.4:c.43_51del, XM_006724855.3:c.43_51del, XM_006724855.2:c.43_51del, XM_006724855.1:c.43_51del, XM_011531210.3:c.43_51del, XM_011531210.2:c.43_51del, XM_011531210.1:c.43_51del, XM_017029924.2:c.43_51del, XM_017029924.1:c.43_51del, XM_047442604.1:c.43_51del, NM_176789.1:c.43_51del, XR_007068204.1:n.178_186del, NP_003819.1:p.Gly15_Gly17del, NP_001293073.1:p.Gly15_Gly17del, NP_001340919.1:p.Gly15_Gly17del, NP_001293074.1:p.Gly15_Gly17del, XP_005274822.1:p.Gly15_Gly17del, XP_005274823.1:p.Gly15_Gly17del, XP_006724918.1:p.Gly15_Gly17del, XP_011529512.1:p.Gly15_Gly17del, XP_016885413.1:p.Gly15_Gly17del, XP_047298560.1:p.Gly15_Gly17del

Select item 14643704486.

rs1464370448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:150730125 (GRCh38)
X:149898597 (GRCh37)
Canonical SPDI:: NC_000023.11:150730124:G:A
Gene:: MTMR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.150730125G>A, NC_000023.10:g.149898597G>A, NG_012551.1:g.41729G>A, NM_003828.5:c.548G>A, NM_003828.4:c.548G>A, NM_003828.3:c.548G>A, NM_003828.2:c.548G>A, NM_001306144.3:c.572G>A, NM_001306144.2:c.572G>A, NM_001306144.1:c.572G>A, NR_148676.3:n.683G>A, NR_148676.2:n.683G>A, NR_148676.1:n.715G>A, NM_001353990.2:c.599G>A, NM_001353990.1:c.599G>A, NM_001306145.2:c.548G>A, NM_001306145.1:c.548G>A, NM_001353992.1:c.266G>A, NM_001353994.1:c.266G>A, NM_001353991.1:c.266G>A, NM_001353993.1:c.266G>A, NM_001353995.1:c.266G>A, NM_001353996.1:c.266G>A, NW_004070890.2:g.6254522G>A, XM_005274765.4:c.650G>A, XM_005274765.3:c.650G>A, XM_005274765.2:c.650G>A, XM_005274765.1:c.650G>A, XM_005274766.4:c.599G>A, XM_005274766.3:c.599G>A, XM_005274766.2:c.599G>A, XM_005274766.1:c.599G>A, XM_006724855.4:c.548G>A, XM_006724855.3:c.548G>A, XM_006724855.2:c.548G>A, XM_006724855.1:c.548G>A, XM_011531210.3:c.650G>A, XM_011531210.2:c.650G>A, XM_011531210.1:c.650G>A, XM_017029921.2:c.266G>A, XM_017029921.1:c.266G>A, XM_017029923.2:c.209G>A, XM_017029923.1:c.209G>A, XM_017029924.2:c.599G>A, XM_017029924.1:c.599G>A, XM_047442604.1:c.548G>A, XM_047442605.1:c.266G>A, NM_176789.1:c.548G>A, XR_007068204.1:n.707G>A, NP_003819.1:p.Arg183Gln, NP_001293073.1:p.Arg191Gln, NP_001340919.1:p.Arg200Gln, NP_001293074.1:p.Arg183Gln, NP_001340921.1:p.Arg89Gln, NP_001340923.1:p.Arg89Gln, NP_001340920.1:p.Arg89Gln, NP_001340922.1:p.Arg89Gln, NP_001340924.1:p.Arg89Gln, NP_001340925.1:p.Arg89Gln, XP_005274822.1:p.Arg217Gln, XP_005274823.1:p.Arg200Gln, XP_006724918.1:p.Arg183Gln, XP_011529512.1:p.Arg217Gln, XP_016885410.1:p.Arg89Gln, XP_016885412.1:p.Arg70Gln, XP_016885413.1:p.Arg200Gln, XP_047298560.1:p.Arg183Gln, XP_047298561.1:p.Arg89Gln

Select item 14596900297.

rs1459690029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:150735465 (GRCh38)
X:149903937 (GRCh37)
Canonical SPDI:: NC_000023.11:150735464:T:C
Gene:: MTMR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000012/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.150735465T>C, NC_000023.10:g.149903937T>C, NG_012551.1:g.47069T>C, NM_001306145.2:c.1058T>C, NM_001306145.1:c.1058T>C, NW_004070890.2:g.6259862T>C, XM_011531210.3:c.1160T>C, XM_011531210.2:c.1160T>C, XM_011531210.1:c.1160T>C, XM_017029924.2:c.1109T>C, XM_017029924.1:c.1109T>C, NP_001293074.1:p.Leu353Pro, XP_011529512.1:p.Leu387Pro, XP_016885413.1:p.Leu370Pro

Select item 14506033108.

rs1450603310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150693641 (GRCh38)
X:149862114 (GRCh37)
Canonical SPDI:: NC_000023.11:150693640:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.150693641C>T, NW_004070890.2:g.6218039C>T, NG_012551.1:g.5246C>T, NM_003828.5:c.111C>T, NM_003828.4:c.111C>T, NM_003828.3:c.111C>T, NM_003828.2:c.111C>T, NM_001306144.3:c.111C>T, NM_001306144.2:c.111C>T, NM_001306144.1:c.111C>T, NR_148676.3:n.246C>T, NR_148676.2:n.246C>T, NR_148676.1:n.278C>T, NM_001353990.2:c.111C>T, NM_001353990.1:c.111C>T, NM_001306145.2:c.111C>T, NM_001306145.1:c.111C>T, NC_000023.10:g.149862114C>T, XM_005274765.4:c.111C>T, XM_005274765.3:c.111C>T, XM_005274765.2:c.111C>T, XM_005274765.1:c.111C>T, XM_005274766.4:c.111C>T, XM_005274766.3:c.111C>T, XM_005274766.2:c.111C>T, XM_005274766.1:c.111C>T, XM_006724855.4:c.111C>T, XM_006724855.3:c.111C>T, XM_006724855.2:c.111C>T, XM_006724855.1:c.111C>T, XM_011531210.3:c.111C>T, XM_011531210.2:c.111C>T, XM_011531210.1:c.111C>T, XM_017029924.2:c.111C>T, XM_017029924.1:c.111C>T, XM_047442604.1:c.111C>T, NM_176789.1:c.111C>T, XR_007068204.1:n.246C>T

Select item 14482987229.

rs1448298722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:150693550 (GRCh38)
X:149862023 (GRCh37)
Canonical SPDI:: NC_000023.11:150693549:C:A
Gene:: MTMR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00003/3 (GnomAD)
HGVS:: NC_000023.11:g.150693550C>A, NW_004070890.2:g.6217948C>A, NG_012551.1:g.5155C>A, NM_003828.5:c.20C>A, NM_003828.4:c.20C>A, NM_003828.3:c.20C>A, NM_003828.2:c.20C>A, NM_001306144.3:c.20C>A, NM_001306144.2:c.20C>A, NM_001306144.1:c.20C>A, NR_148676.3:n.155C>A, NR_148676.2:n.155C>A, NR_148676.1:n.187C>A, NM_001353990.2:c.20C>A, NM_001353990.1:c.20C>A, NM_001306145.2:c.20C>A, NM_001306145.1:c.20C>A, NC_000023.10:g.149862023C>A, XM_005274765.4:c.20C>A, XM_005274765.3:c.20C>A, XM_005274765.2:c.20C>A, XM_005274765.1:c.20C>A, XM_005274766.4:c.20C>A, XM_005274766.3:c.20C>A, XM_005274766.2:c.20C>A, XM_005274766.1:c.20C>A, XM_006724855.4:c.20C>A, XM_006724855.3:c.20C>A, XM_006724855.2:c.20C>A, XM_006724855.1:c.20C>A, XM_011531210.3:c.20C>A, XM_011531210.2:c.20C>A, XM_011531210.1:c.20C>A, XM_017029924.2:c.20C>A, XM_017029924.1:c.20C>A, XM_047442604.1:c.20C>A, NM_176789.1:c.20C>A, XR_007068204.1:n.155C>A, NP_003819.1:p.Ala7Glu, NP_001293073.1:p.Ala7Glu, NP_001340919.1:p.Ala7Glu, NP_001293074.1:p.Ala7Glu, XP_005274822.1:p.Ala7Glu, XP_005274823.1:p.Ala7Glu, XP_006724918.1:p.Ala7Glu, XP_011529512.1:p.Ala7Glu, XP_016885413.1:p.Ala7Glu, XP_047298560.1:p.Ala7Glu

Select item 144444668110.

rs1444446681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:150693651 (GRCh38)
X:149862124 (GRCh37)
Canonical SPDI:: NC_000023.11:150693650:C:A
Gene:: MTMR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.150693651C>A, NW_004070890.2:g.6218049C>A, NG_012551.1:g.5256C>A, NM_003828.5:c.121C>A, NM_003828.4:c.121C>A, NM_003828.3:c.121C>A, NM_003828.2:c.121C>A, NM_001306144.3:c.121C>A, NM_001306144.2:c.121C>A, NM_001306144.1:c.121C>A, NR_148676.3:n.256C>A, NR_148676.2:n.256C>A, NR_148676.1:n.288C>A, NM_001353990.2:c.121C>A, NM_001353990.1:c.121C>A, NM_001306145.2:c.121C>A, NM_001306145.1:c.121C>A, NC_000023.10:g.149862124C>A, XM_005274765.4:c.121C>A, XM_005274765.3:c.121C>A, XM_005274765.2:c.121C>A, XM_005274765.1:c.121C>A, XM_005274766.4:c.121C>A, XM_005274766.3:c.121C>A, XM_005274766.2:c.121C>A, XM_005274766.1:c.121C>A, XM_006724855.4:c.121C>A, XM_006724855.3:c.121C>A, XM_006724855.2:c.121C>A, XM_006724855.1:c.121C>A, XM_011531210.3:c.121C>A, XM_011531210.2:c.121C>A, XM_011531210.1:c.121C>A, XM_017029924.2:c.121C>A, XM_017029924.1:c.121C>A, XM_047442604.1:c.121C>A, NM_176789.1:c.121C>A, XR_007068204.1:n.256C>A, NP_003819.1:p.Gln41Lys, NP_001293073.1:p.Gln41Lys, NP_001340919.1:p.Gln41Lys, NP_001293074.1:p.Gln41Lys, XP_005274822.1:p.Gln41Lys, XP_005274823.1:p.Gln41Lys, XP_006724918.1:p.Gln41Lys, XP_011529512.1:p.Gln41Lys, XP_016885413.1:p.Gln41Lys, XP_047298560.1:p.Gln41Lys

Select item 143718867711.

rs1437188677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:150693602 (GRCh38)
X:149862075 (GRCh37)
Canonical SPDI:: NC_000023.11:150693601:C:A,NC_000023.11:150693601:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.150693602C>A, NC_000023.11:g.150693602C>T, NW_004070890.2:g.6218000C>A, NW_004070890.2:g.6218000C>T, NG_012551.1:g.5207C>A, NG_012551.1:g.5207C>T, NM_003828.5:c.72C>A, NM_003828.5:c.72C>T, NM_003828.4:c.72C>A, NM_003828.4:c.72C>T, NM_003828.3:c.72C>A, NM_003828.3:c.72C>T, NM_003828.2:c.72C>A, NM_003828.2:c.72C>T, NM_001306144.3:c.72C>A, NM_001306144.3:c.72C>T, NM_001306144.2:c.72C>A, NM_001306144.2:c.72C>T, NM_001306144.1:c.72C>A, NM_001306144.1:c.72C>T, NR_148676.3:n.207C>A, NR_148676.3:n.207C>T, NR_148676.2:n.207C>A, NR_148676.2:n.207C>T, NR_148676.1:n.239C>A, NR_148676.1:n.239C>T, NM_001353990.2:c.72C>A, NM_001353990.2:c.72C>T, NM_001353990.1:c.72C>A, NM_001353990.1:c.72C>T, NM_001306145.2:c.72C>A, NM_001306145.2:c.72C>T, NM_001306145.1:c.72C>A, NM_001306145.1:c.72C>T, NC_000023.10:g.149862075C>A, NC_000023.10:g.149862075C>T, XM_005274765.4:c.72C>A, XM_005274765.4:c.72C>T, XM_005274765.3:c.72C>A, XM_005274765.3:c.72C>T, XM_005274765.2:c.72C>A, XM_005274765.2:c.72C>T, XM_005274765.1:c.72C>A, XM_005274765.1:c.72C>T, XM_005274766.4:c.72C>A, XM_005274766.4:c.72C>T, XM_005274766.3:c.72C>A, XM_005274766.3:c.72C>T, XM_005274766.2:c.72C>A, XM_005274766.2:c.72C>T, XM_005274766.1:c.72C>A, XM_005274766.1:c.72C>T, XM_006724855.4:c.72C>A, XM_006724855.4:c.72C>T, XM_006724855.3:c.72C>A, XM_006724855.3:c.72C>T, XM_006724855.2:c.72C>A, XM_006724855.2:c.72C>T, XM_006724855.1:c.72C>A, XM_006724855.1:c.72C>T, XM_011531210.3:c.72C>A, XM_011531210.3:c.72C>T, XM_011531210.2:c.72C>A, XM_011531210.2:c.72C>T, XM_011531210.1:c.72C>A, XM_011531210.1:c.72C>T, XM_017029924.2:c.72C>A, XM_017029924.2:c.72C>T, XM_017029924.1:c.72C>A, XM_017029924.1:c.72C>T, XM_047442604.1:c.72C>A, XM_047442604.1:c.72C>T, NM_176789.1:c.72C>A, NM_176789.1:c.72C>T, XR_007068204.1:n.207C>A, XR_007068204.1:n.207C>T

Select item 142855664112.

rs1428556641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150693632 (GRCh38)
X:149862105 (GRCh37)
Canonical SPDI:: NC_000023.11:150693631:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.150693632C>T, NW_004070890.2:g.6218030C>T, NG_012551.1:g.5237C>T, NM_003828.5:c.102C>T, NM_003828.4:c.102C>T, NM_003828.3:c.102C>T, NM_003828.2:c.102C>T, NM_001306144.3:c.102C>T, NM_001306144.2:c.102C>T, NM_001306144.1:c.102C>T, NR_148676.3:n.237C>T, NR_148676.2:n.237C>T, NR_148676.1:n.269C>T, NM_001353990.2:c.102C>T, NM_001353990.1:c.102C>T, NM_001306145.2:c.102C>T, NM_001306145.1:c.102C>T, NC_000023.10:g.149862105C>T, XM_005274765.4:c.102C>T, XM_005274765.3:c.102C>T, XM_005274765.2:c.102C>T, XM_005274765.1:c.102C>T, XM_005274766.4:c.102C>T, XM_005274766.3:c.102C>T, XM_005274766.2:c.102C>T, XM_005274766.1:c.102C>T, XM_006724855.4:c.102C>T, XM_006724855.3:c.102C>T, XM_006724855.2:c.102C>T, XM_006724855.1:c.102C>T, XM_011531210.3:c.102C>T, XM_011531210.2:c.102C>T, XM_011531210.1:c.102C>T, XM_017029924.2:c.102C>T, XM_017029924.1:c.102C>T, XM_047442604.1:c.102C>T, NM_176789.1:c.102C>T, XR_007068204.1:n.237C>T

Select item 141985471313.

rs1419854713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150735473 (GRCh38)
X:149903945 (GRCh37)
Canonical SPDI:: NC_000023.11:150735472:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.150735473C>T, NC_000023.10:g.149903945C>T, NG_012551.1:g.47077C>T, NM_001306145.2:c.1066C>T, NM_001306145.1:c.1066C>T, NW_004070890.2:g.6259870C>T, XM_011531210.3:c.1168C>T, XM_011531210.2:c.1168C>T, XM_011531210.1:c.1168C>T, XM_017029924.2:c.1117C>T, XM_017029924.1:c.1117C>T, NP_001293074.1:p.Gln356Ter, XP_011529512.1:p.Gln390Ter, XP_016885413.1:p.Gln373Ter

Select item 141849090114.

rs1418490901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:150735494 (GRCh38)
X:149903966 (GRCh37)
Canonical SPDI:: NC_000023.11:150735493:G:T
Gene:: MTMR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.150735494G>T, NC_000023.10:g.149903966G>T, NG_012551.1:g.47098G>T, NM_001306145.2:c.1087G>T, NM_001306145.1:c.1087G>T, NW_004070890.2:g.6259891G>T, XM_011531210.3:c.1189G>T, XM_011531210.2:c.1189G>T, XM_011531210.1:c.1189G>T, XM_017029924.2:c.1138G>T, XM_017029924.1:c.1138G>T, NP_001293074.1:p.Glu363Ter, XP_011529512.1:p.Glu397Ter, XP_016885413.1:p.Glu380Ter

Select item 141643818715.

rs1416438187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:150730584 (GRCh38)
X:149899056 (GRCh37)
Canonical SPDI:: NC_000023.11:150730583:T:A
Gene:: MTMR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.150730584T>A, NC_000023.10:g.149899056T>A, NG_012551.1:g.42188T>A, NM_003828.5:c.693T>A, NM_003828.4:c.693T>A, NM_003828.3:c.693T>A, NM_003828.2:c.693T>A, NM_001306144.3:c.717T>A, NM_001306144.2:c.717T>A, NM_001306144.1:c.717T>A, NR_148676.3:n.828T>A, NR_148676.2:n.828T>A, NR_148676.1:n.860T>A, NM_001353990.2:c.744T>A, NM_001353990.1:c.744T>A, NM_001306145.2:c.693T>A, NM_001306145.1:c.693T>A, NM_001353992.1:c.411T>A, NM_001353994.1:c.411T>A, NM_001353991.1:c.411T>A, NM_001353993.1:c.411T>A, NM_001353995.1:c.411T>A, NM_001353996.1:c.411T>A, NW_004070890.2:g.6254981T>A, XM_005274765.4:c.795T>A, XM_005274765.3:c.795T>A, XM_005274765.2:c.795T>A, XM_005274765.1:c.795T>A, XM_005274766.4:c.744T>A, XM_005274766.3:c.744T>A, XM_005274766.2:c.744T>A, XM_005274766.1:c.744T>A, XM_006724855.4:c.693T>A, XM_006724855.3:c.693T>A, XM_006724855.2:c.693T>A, XM_006724855.1:c.693T>A, XM_011531210.3:c.795T>A, XM_011531210.2:c.795T>A, XM_011531210.1:c.795T>A, XM_017029921.2:c.411T>A, XM_017029921.1:c.411T>A, XM_017029923.2:c.354T>A, XM_017029923.1:c.354T>A, XM_017029924.2:c.744T>A, XM_017029924.1:c.744T>A, XM_047442604.1:c.693T>A, XM_047442605.1:c.411T>A, NM_176789.1:c.693T>A, XR_007068204.1:n.852T>A, NP_003819.1:p.Asp231Glu, NP_001293073.1:p.Asp239Glu, NP_001340919.1:p.Asp248Glu, NP_001293074.1:p.Asp231Glu, NP_001340921.1:p.Asp137Glu, NP_001340923.1:p.Asp137Glu, NP_001340920.1:p.Asp137Glu, NP_001340922.1:p.Asp137Glu, NP_001340924.1:p.Asp137Glu, NP_001340925.1:p.Asp137Glu, XP_005274822.1:p.Asp265Glu, XP_005274823.1:p.Asp248Glu, XP_006724918.1:p.Asp231Glu, XP_011529512.1:p.Asp265Glu, XP_016885410.1:p.Asp137Glu, XP_016885412.1:p.Asp118Glu, XP_016885413.1:p.Asp248Glu, XP_047298560.1:p.Asp231Glu, XP_047298561.1:p.Asp137Glu

Select item 141249580616.

rs1412495806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150693618 (GRCh38)
X:149862091 (GRCh37)
Canonical SPDI:: NC_000023.11:150693617:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000045/1 (TOMMO)
T=0.002022/3 (KOREAN)
HGVS:: NC_000023.11:g.150693618C>T, NW_004070890.2:g.6218016C>T, NG_012551.1:g.5223C>T, NM_003828.5:c.88C>T, NM_003828.4:c.88C>T, NM_003828.3:c.88C>T, NM_003828.2:c.88C>T, NM_001306144.3:c.88C>T, NM_001306144.2:c.88C>T, NM_001306144.1:c.88C>T, NR_148676.3:n.223C>T, NR_148676.2:n.223C>T, NR_148676.1:n.255C>T, NM_001353990.2:c.88C>T, NM_001353990.1:c.88C>T, NM_001306145.2:c.88C>T, NM_001306145.1:c.88C>T, NC_000023.10:g.149862091C>T, XM_005274765.4:c.88C>T, XM_005274765.3:c.88C>T, XM_005274765.2:c.88C>T, XM_005274765.1:c.88C>T, XM_005274766.4:c.88C>T, XM_005274766.3:c.88C>T, XM_005274766.2:c.88C>T, XM_005274766.1:c.88C>T, XM_006724855.4:c.88C>T, XM_006724855.3:c.88C>T, XM_006724855.2:c.88C>T, XM_006724855.1:c.88C>T, XM_011531210.3:c.88C>T, XM_011531210.2:c.88C>T, XM_011531210.1:c.88C>T, XM_017029924.2:c.88C>T, XM_017029924.1:c.88C>T, XM_047442604.1:c.88C>T, NM_176789.1:c.88C>T, XR_007068204.1:n.223C>T, NP_003819.1:p.Arg30Trp, NP_001293073.1:p.Arg30Trp, NP_001340919.1:p.Arg30Trp, NP_001293074.1:p.Arg30Trp, XP_005274822.1:p.Arg30Trp, XP_005274823.1:p.Arg30Trp, XP_006724918.1:p.Arg30Trp, XP_011529512.1:p.Arg30Trp, XP_016885413.1:p.Arg30Trp, XP_047298560.1:p.Arg30Trp

Select item 140394650917.

rs1403946509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150693625 (GRCh38)
X:149862098 (GRCh37)
Canonical SPDI:: NC_000023.11:150693624:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.150693625C>T, NW_004070890.2:g.6218023C>T, NG_012551.1:g.5230C>T, NM_003828.5:c.95C>T, NM_003828.4:c.95C>T, NM_003828.3:c.95C>T, NM_003828.2:c.95C>T, NM_001306144.3:c.95C>T, NM_001306144.2:c.95C>T, NM_001306144.1:c.95C>T, NR_148676.3:n.230C>T, NR_148676.2:n.230C>T, NR_148676.1:n.262C>T, NM_001353990.2:c.95C>T, NM_001353990.1:c.95C>T, NM_001306145.2:c.95C>T, NM_001306145.1:c.95C>T, NC_000023.10:g.149862098C>T, XM_005274765.4:c.95C>T, XM_005274765.3:c.95C>T, XM_005274765.2:c.95C>T, XM_005274765.1:c.95C>T, XM_005274766.4:c.95C>T, XM_005274766.3:c.95C>T, XM_005274766.2:c.95C>T, XM_005274766.1:c.95C>T, XM_006724855.4:c.95C>T, XM_006724855.3:c.95C>T, XM_006724855.2:c.95C>T, XM_006724855.1:c.95C>T, XM_011531210.3:c.95C>T, XM_011531210.2:c.95C>T, XM_011531210.1:c.95C>T, XM_017029924.2:c.95C>T, XM_017029924.1:c.95C>T, XM_047442604.1:c.95C>T, NM_176789.1:c.95C>T, XR_007068204.1:n.230C>T, NP_003819.1:p.Ala32Val, NP_001293073.1:p.Ala32Val, NP_001340919.1:p.Ala32Val, NP_001293074.1:p.Ala32Val, XP_005274822.1:p.Ala32Val, XP_005274823.1:p.Ala32Val, XP_006724918.1:p.Ala32Val, XP_011529512.1:p.Ala32Val, XP_016885413.1:p.Ala32Val, XP_047298560.1:p.Ala32Val

Select item 138909079618.

rs1389090796 has merged into rs782326539 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG [Show Flanks]
Chromosome:: X:150693553 (GRCh38)
X:149862026 (GRCh37)
Canonical SPDI:: NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
Gene:: MTMR1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,intron_variant,inframe_deletion,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCGGCGGCGGCGG=0./0 (ALFA)
-=0.00053/2 (1000Genomes)
CGG=0.0007/9 (TOMMO)
HGVS:: NC_000023.11:g.150693541CGG[4], NC_000023.11:g.150693541CGG[5], NC_000023.11:g.150693541CGG[6], NC_000023.11:g.150693541CGG[8], NC_000023.11:g.150693541CGG[9], NC_000023.11:g.150693541CGG[15], NW_004070890.2:g.6217939CGG[4], NW_004070890.2:g.6217939CGG[5], NW_004070890.2:g.6217939CGG[6], NW_004070890.2:g.6217939CGG[8], NW_004070890.2:g.6217939CGG[9], NW_004070890.2:g.6217939CGG[15], NG_012551.1:g.5146CGG[4], NG_012551.1:g.5146CGG[5], NG_012551.1:g.5146CGG[6], NG_012551.1:g.5146CGG[8], NG_012551.1:g.5146CGG[9], NG_012551.1:g.5146CGG[15], NM_003828.5:c.11CGG[4], NM_003828.5:c.11CGG[5], NM_003828.5:c.11CGG[6], NM_003828.5:c.11CGG[8], NM_003828.5:c.11CGG[9], NM_003828.5:c.11CGG[15], NM_003828.4:c.11CGG[4], NM_003828.4:c.11CGG[5], NM_003828.4:c.11CGG[6], NM_003828.4:c.11CGG[8], NM_003828.4:c.11CGG[9], NM_003828.4:c.11CGG[15], NM_003828.3:c.11CGG[4], NM_003828.3:c.11CGG[5], NM_003828.3:c.11CGG[6], NM_003828.3:c.11CGG[8], NM_003828.3:c.11CGG[9], NM_003828.3:c.11CGG[15], NM_003828.2:c.11CGG[4], NM_003828.2:c.11CGG[5], NM_003828.2:c.11CGG[6], NM_003828.2:c.11CGG[8], NM_003828.2:c.11CGG[9], NM_003828.2:c.11CGG[15], NM_001306144.3:c.11CGG[4], NM_001306144.3:c.11CGG[5], NM_001306144.3:c.11CGG[6], NM_001306144.3:c.11CGG[8], NM_001306144.3:c.11CGG[9], NM_001306144.3:c.11CGG[15], NM_001306144.2:c.11CGG[4], NM_001306144.2:c.11CGG[5], NM_001306144.2:c.11CGG[6], NM_001306144.2:c.11CGG[8], NM_001306144.2:c.11CGG[9], NM_001306144.2:c.11CGG[15], NM_001306144.1:c.11CGG[4], NM_001306144.1:c.11CGG[5], NM_001306144.1:c.11CGG[6], NM_001306144.1:c.11CGG[8], NM_001306144.1:c.11CGG[9], NM_001306144.1:c.11CGG[15], NR_148676.3:n.146CGG[4], NR_148676.3:n.146CGG[5], NR_148676.3:n.146CGG[6], NR_148676.3:n.146CGG[8], NR_148676.3:n.146CGG[9], NR_148676.3:n.146CGG[15], NR_148676.2:n.146CGG[4], NR_148676.2:n.146CGG[5], NR_148676.2:n.146CGG[6], NR_148676.2:n.146CGG[8], NR_148676.2:n.146CGG[9], NR_148676.2:n.146CGG[15], NR_148676.1:n.178CGG[4], NR_148676.1:n.178CGG[5], NR_148676.1:n.178CGG[6], NR_148676.1:n.178CGG[8], NR_148676.1:n.178CGG[9], NR_148676.1:n.178CGG[15], NM_001353990.2:c.11CGG[4], NM_001353990.2:c.11CGG[5], NM_001353990.2:c.11CGG[6], NM_001353990.2:c.11CGG[8], NM_001353990.2:c.11CGG[9], NM_001353990.2:c.11CGG[15], NM_001353990.1:c.11CGG[4], NM_001353990.1:c.11CGG[5], NM_001353990.1:c.11CGG[6], NM_001353990.1:c.11CGG[8], NM_001353990.1:c.11CGG[9], NM_001353990.1:c.11CGG[15], NM_001306145.2:c.11CGG[4], NM_001306145.2:c.11CGG[5], NM_001306145.2:c.11CGG[6], NM_001306145.2:c.11CGG[8], NM_001306145.2:c.11CGG[9], NM_001306145.2:c.11CGG[15], NM_001306145.1:c.11CGG[4], NM_001306145.1:c.11CGG[5], NM_001306145.1:c.11CGG[6], NM_001306145.1:c.11CGG[8], NM_001306145.1:c.11CGG[9], NM_001306145.1:c.11CGG[15], NC_000023.10:g.149862014CGG[4], NC_000023.10:g.149862014CGG[5], NC_000023.10:g.149862014CGG[6], NC_000023.10:g.149862014CGG[8], NC_000023.10:g.149862014CGG[9], NC_000023.10:g.149862014CGG[15], XM_005274765.4:c.11CGG[4], XM_005274765.4:c.11CGG[5], XM_005274765.4:c.11CGG[6], XM_005274765.4:c.11CGG[8], XM_005274765.4:c.11CGG[9], XM_005274765.4:c.11CGG[15], XM_005274765.3:c.11CGG[4], XM_005274765.3:c.11CGG[5], XM_005274765.3:c.11CGG[6], XM_005274765.3:c.11CGG[8], XM_005274765.3:c.11CGG[9], XM_005274765.3:c.11CGG[15], XM_005274765.2:c.11CGG[4], XM_005274765.2:c.11CGG[5], XM_005274765.2:c.11CGG[6], XM_005274765.2:c.11CGG[8], XM_005274765.2:c.11CGG[9], XM_005274765.2:c.11CGG[15], XM_005274765.1:c.11CGG[4], XM_005274765.1:c.11CGG[5], XM_005274765.1:c.11CGG[6], XM_005274765.1:c.11CGG[8], XM_005274765.1:c.11CGG[9], XM_005274765.1:c.11CGG[15], XM_005274766.4:c.11CGG[4], XM_005274766.4:c.11CGG[5], XM_005274766.4:c.11CGG[6], XM_005274766.4:c.11CGG[8], XM_005274766.4:c.11CGG[9], XM_005274766.4:c.11CGG[15], XM_005274766.3:c.11CGG[4], XM_005274766.3:c.11CGG[5], XM_005274766.3:c.11CGG[6], XM_005274766.3:c.11CGG[8], XM_005274766.3:c.11CGG[9], XM_005274766.3:c.11CGG[15], XM_005274766.2:c.11CGG[4], XM_005274766.2:c.11CGG[5], XM_005274766.2:c.11CGG[6], XM_005274766.2:c.11CGG[8], XM_005274766.2:c.11CGG[9], XM_005274766.2:c.11CGG[15], XM_005274766.1:c.11CGG[4], XM_005274766.1:c.11CGG[5], XM_005274766.1:c.11CGG[6], XM_005274766.1:c.11CGG[8], XM_005274766.1:c.11CGG[9], XM_005274766.1:c.11CGG[15], XM_006724855.4:c.11CGG[4], XM_006724855.4:c.11CGG[5], XM_006724855.4:c.11CGG[6], XM_006724855.4:c.11CGG[8], XM_006724855.4:c.11CGG[9], XM_006724855.4:c.11CGG[15], XM_006724855.3:c.11CGG[4], XM_006724855.3:c.11CGG[5], XM_006724855.3:c.11CGG[6], XM_006724855.3:c.11CGG[8], XM_006724855.3:c.11CGG[9], XM_006724855.3:c.11CGG[15], XM_006724855.2:c.11CGG[4], XM_006724855.2:c.11CGG[5], XM_006724855.2:c.11CGG[6], XM_006724855.2:c.11CGG[8], XM_006724855.2:c.11CGG[9], XM_006724855.2:c.11CGG[15], XM_006724855.1:c.11CGG[4], XM_006724855.1:c.11CGG[5], XM_006724855.1:c.11CGG[6], XM_006724855.1:c.11CGG[8], XM_006724855.1:c.11CGG[9], XM_006724855.1:c.11CGG[15], XM_011531210.3:c.11CGG[4], XM_011531210.3:c.11CGG[5], XM_011531210.3:c.11CGG[6], XM_011531210.3:c.11CGG[8], XM_011531210.3:c.11CGG[9], XM_011531210.3:c.11CGG[15], XM_011531210.2:c.11CGG[4], XM_011531210.2:c.11CGG[5], XM_011531210.2:c.11CGG[6], XM_011531210.2:c.11CGG[8], XM_011531210.2:c.11CGG[9], XM_011531210.2:c.11CGG[15], XM_011531210.1:c.11CGG[4], XM_011531210.1:c.11CGG[5], XM_011531210.1:c.11CGG[6], XM_011531210.1:c.11CGG[8], XM_011531210.1:c.11CGG[9], XM_011531210.1:c.11CGG[15], XM_017029924.2:c.11CGG[4], XM_017029924.2:c.11CGG[5], XM_017029924.2:c.11CGG[6], XM_017029924.2:c.11CGG[8], XM_017029924.2:c.11CGG[9], XM_017029924.2:c.11CGG[15], XM_017029924.1:c.11CGG[4], XM_017029924.1:c.11CGG[5], XM_017029924.1:c.11CGG[6], XM_017029924.1:c.11CGG[8], XM_017029924.1:c.11CGG[9], XM_017029924.1:c.11CGG[15], XM_047442604.1:c.11CGG[4], XM_047442604.1:c.11CGG[5], XM_047442604.1:c.11CGG[6], XM_047442604.1:c.11CGG[8], XM_047442604.1:c.11CGG[9], XM_047442604.1:c.11CGG[15], NM_176789.1:c.11CGG[4], NM_176789.1:c.11CGG[5], NM_176789.1:c.11CGG[6], NM_176789.1:c.11CGG[8], NM_176789.1:c.11CGG[9], NM_176789.1:c.11CGG[15], XR_007068204.1:n.146CGG[4], XR_007068204.1:n.146CGG[5], XR_007068204.1:n.146CGG[6], XR_007068204.1:n.146CGG[8], XR_007068204.1:n.146CGG[9], XR_007068204.1:n.146CGG[15], NP_003819.1:p.Ala8_Ala10del, NP_003819.1:p.Ala9_Ala10del, NP_003819.1:p.Ala10del, NP_003819.1:p.Ala10dup, NP_003819.1:p.Ala9_Ala10dup, NP_003819.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, NP_001293073.1:p.Ala8_Ala10del, NP_001293073.1:p.Ala9_Ala10del, NP_001293073.1:p.Ala10del, NP_001293073.1:p.Ala10dup, NP_001293073.1:p.Ala9_Ala10dup, NP_001293073.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, NP_001340919.1:p.Ala8_Ala10del, NP_001340919.1:p.Ala9_Ala10del, NP_001340919.1:p.Ala10del, NP_001340919.1:p.Ala10dup, NP_001340919.1:p.Ala9_Ala10dup, NP_001340919.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, NP_001293074.1:p.Ala8_Ala10del, NP_001293074.1:p.Ala9_Ala10del, NP_001293074.1:p.Ala10del, NP_001293074.1:p.Ala10dup, NP_001293074.1:p.Ala9_Ala10dup, NP_001293074.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_005274822.1:p.Ala8_Ala10del, XP_005274822.1:p.Ala9_Ala10del, XP_005274822.1:p.Ala10del, XP_005274822.1:p.Ala10dup, XP_005274822.1:p.Ala9_Ala10dup, XP_005274822.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_005274823.1:p.Ala8_Ala10del, XP_005274823.1:p.Ala9_Ala10del, XP_005274823.1:p.Ala10del, XP_005274823.1:p.Ala10dup, XP_005274823.1:p.Ala9_Ala10dup, XP_005274823.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_006724918.1:p.Ala8_Ala10del, XP_006724918.1:p.Ala9_Ala10del, XP_006724918.1:p.Ala10del, XP_006724918.1:p.Ala10dup, XP_006724918.1:p.Ala9_Ala10dup, XP_006724918.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_011529512.1:p.Ala8_Ala10del, XP_011529512.1:p.Ala9_Ala10del, XP_011529512.1:p.Ala10del, XP_011529512.1:p.Ala10dup, XP_011529512.1:p.Ala9_Ala10dup, XP_011529512.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_016885413.1:p.Ala8_Ala10del, XP_016885413.1:p.Ala9_Ala10del, XP_016885413.1:p.Ala10del, XP_016885413.1:p.Ala10dup, XP_016885413.1:p.Ala9_Ala10dup, XP_016885413.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_047298560.1:p.Ala8_Ala10del, XP_047298560.1:p.Ala9_Ala10del, XP_047298560.1:p.Ala10del, XP_047298560.1:p.Ala10dup, XP_047298560.1:p.Ala9_Ala10dup, XP_047298560.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla

Select item 138786042619.

rs1387860426 has merged into rs782326539 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG [Show Flanks]
Chromosome:: X:150693553 (GRCh38)
X:149862026 (GRCh37)
Canonical SPDI:: NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGGCGGCGGCGG,NC_000023.11:150693540:CGGCGGCGGCGGCGGCGGCGG:CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG
Gene:: MTMR1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,intron_variant,inframe_deletion,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCGGCGGCGGCGG=0./0 (ALFA)
-=0.00053/2 (1000Genomes)
CGG=0.0007/9 (TOMMO)
HGVS:: NC_000023.11:g.150693541CGG[4], NC_000023.11:g.150693541CGG[5], NC_000023.11:g.150693541CGG[6], NC_000023.11:g.150693541CGG[8], NC_000023.11:g.150693541CGG[9], NC_000023.11:g.150693541CGG[15], NW_004070890.2:g.6217939CGG[4], NW_004070890.2:g.6217939CGG[5], NW_004070890.2:g.6217939CGG[6], NW_004070890.2:g.6217939CGG[8], NW_004070890.2:g.6217939CGG[9], NW_004070890.2:g.6217939CGG[15], NG_012551.1:g.5146CGG[4], NG_012551.1:g.5146CGG[5], NG_012551.1:g.5146CGG[6], NG_012551.1:g.5146CGG[8], NG_012551.1:g.5146CGG[9], NG_012551.1:g.5146CGG[15], NM_003828.5:c.11CGG[4], NM_003828.5:c.11CGG[5], NM_003828.5:c.11CGG[6], NM_003828.5:c.11CGG[8], NM_003828.5:c.11CGG[9], NM_003828.5:c.11CGG[15], NM_003828.4:c.11CGG[4], NM_003828.4:c.11CGG[5], NM_003828.4:c.11CGG[6], NM_003828.4:c.11CGG[8], NM_003828.4:c.11CGG[9], NM_003828.4:c.11CGG[15], NM_003828.3:c.11CGG[4], NM_003828.3:c.11CGG[5], NM_003828.3:c.11CGG[6], NM_003828.3:c.11CGG[8], NM_003828.3:c.11CGG[9], NM_003828.3:c.11CGG[15], NM_003828.2:c.11CGG[4], NM_003828.2:c.11CGG[5], NM_003828.2:c.11CGG[6], NM_003828.2:c.11CGG[8], NM_003828.2:c.11CGG[9], NM_003828.2:c.11CGG[15], NM_001306144.3:c.11CGG[4], NM_001306144.3:c.11CGG[5], NM_001306144.3:c.11CGG[6], NM_001306144.3:c.11CGG[8], NM_001306144.3:c.11CGG[9], NM_001306144.3:c.11CGG[15], NM_001306144.2:c.11CGG[4], NM_001306144.2:c.11CGG[5], NM_001306144.2:c.11CGG[6], NM_001306144.2:c.11CGG[8], NM_001306144.2:c.11CGG[9], NM_001306144.2:c.11CGG[15], NM_001306144.1:c.11CGG[4], NM_001306144.1:c.11CGG[5], NM_001306144.1:c.11CGG[6], NM_001306144.1:c.11CGG[8], NM_001306144.1:c.11CGG[9], NM_001306144.1:c.11CGG[15], NR_148676.3:n.146CGG[4], NR_148676.3:n.146CGG[5], NR_148676.3:n.146CGG[6], NR_148676.3:n.146CGG[8], NR_148676.3:n.146CGG[9], NR_148676.3:n.146CGG[15], NR_148676.2:n.146CGG[4], NR_148676.2:n.146CGG[5], NR_148676.2:n.146CGG[6], NR_148676.2:n.146CGG[8], NR_148676.2:n.146CGG[9], NR_148676.2:n.146CGG[15], NR_148676.1:n.178CGG[4], NR_148676.1:n.178CGG[5], NR_148676.1:n.178CGG[6], NR_148676.1:n.178CGG[8], NR_148676.1:n.178CGG[9], NR_148676.1:n.178CGG[15], NM_001353990.2:c.11CGG[4], NM_001353990.2:c.11CGG[5], NM_001353990.2:c.11CGG[6], NM_001353990.2:c.11CGG[8], NM_001353990.2:c.11CGG[9], NM_001353990.2:c.11CGG[15], NM_001353990.1:c.11CGG[4], NM_001353990.1:c.11CGG[5], NM_001353990.1:c.11CGG[6], NM_001353990.1:c.11CGG[8], NM_001353990.1:c.11CGG[9], NM_001353990.1:c.11CGG[15], NM_001306145.2:c.11CGG[4], NM_001306145.2:c.11CGG[5], NM_001306145.2:c.11CGG[6], NM_001306145.2:c.11CGG[8], NM_001306145.2:c.11CGG[9], NM_001306145.2:c.11CGG[15], NM_001306145.1:c.11CGG[4], NM_001306145.1:c.11CGG[5], NM_001306145.1:c.11CGG[6], NM_001306145.1:c.11CGG[8], NM_001306145.1:c.11CGG[9], NM_001306145.1:c.11CGG[15], NC_000023.10:g.149862014CGG[4], NC_000023.10:g.149862014CGG[5], NC_000023.10:g.149862014CGG[6], NC_000023.10:g.149862014CGG[8], NC_000023.10:g.149862014CGG[9], NC_000023.10:g.149862014CGG[15], XM_005274765.4:c.11CGG[4], XM_005274765.4:c.11CGG[5], XM_005274765.4:c.11CGG[6], XM_005274765.4:c.11CGG[8], XM_005274765.4:c.11CGG[9], XM_005274765.4:c.11CGG[15], XM_005274765.3:c.11CGG[4], XM_005274765.3:c.11CGG[5], XM_005274765.3:c.11CGG[6], XM_005274765.3:c.11CGG[8], XM_005274765.3:c.11CGG[9], XM_005274765.3:c.11CGG[15], XM_005274765.2:c.11CGG[4], XM_005274765.2:c.11CGG[5], XM_005274765.2:c.11CGG[6], XM_005274765.2:c.11CGG[8], XM_005274765.2:c.11CGG[9], XM_005274765.2:c.11CGG[15], XM_005274765.1:c.11CGG[4], XM_005274765.1:c.11CGG[5], XM_005274765.1:c.11CGG[6], XM_005274765.1:c.11CGG[8], XM_005274765.1:c.11CGG[9], XM_005274765.1:c.11CGG[15], XM_005274766.4:c.11CGG[4], XM_005274766.4:c.11CGG[5], XM_005274766.4:c.11CGG[6], XM_005274766.4:c.11CGG[8], XM_005274766.4:c.11CGG[9], XM_005274766.4:c.11CGG[15], XM_005274766.3:c.11CGG[4], XM_005274766.3:c.11CGG[5], XM_005274766.3:c.11CGG[6], XM_005274766.3:c.11CGG[8], XM_005274766.3:c.11CGG[9], XM_005274766.3:c.11CGG[15], XM_005274766.2:c.11CGG[4], XM_005274766.2:c.11CGG[5], XM_005274766.2:c.11CGG[6], XM_005274766.2:c.11CGG[8], XM_005274766.2:c.11CGG[9], XM_005274766.2:c.11CGG[15], XM_005274766.1:c.11CGG[4], XM_005274766.1:c.11CGG[5], XM_005274766.1:c.11CGG[6], XM_005274766.1:c.11CGG[8], XM_005274766.1:c.11CGG[9], XM_005274766.1:c.11CGG[15], XM_006724855.4:c.11CGG[4], XM_006724855.4:c.11CGG[5], XM_006724855.4:c.11CGG[6], XM_006724855.4:c.11CGG[8], XM_006724855.4:c.11CGG[9], XM_006724855.4:c.11CGG[15], XM_006724855.3:c.11CGG[4], XM_006724855.3:c.11CGG[5], XM_006724855.3:c.11CGG[6], XM_006724855.3:c.11CGG[8], XM_006724855.3:c.11CGG[9], XM_006724855.3:c.11CGG[15], XM_006724855.2:c.11CGG[4], XM_006724855.2:c.11CGG[5], XM_006724855.2:c.11CGG[6], XM_006724855.2:c.11CGG[8], XM_006724855.2:c.11CGG[9], XM_006724855.2:c.11CGG[15], XM_006724855.1:c.11CGG[4], XM_006724855.1:c.11CGG[5], XM_006724855.1:c.11CGG[6], XM_006724855.1:c.11CGG[8], XM_006724855.1:c.11CGG[9], XM_006724855.1:c.11CGG[15], XM_011531210.3:c.11CGG[4], XM_011531210.3:c.11CGG[5], XM_011531210.3:c.11CGG[6], XM_011531210.3:c.11CGG[8], XM_011531210.3:c.11CGG[9], XM_011531210.3:c.11CGG[15], XM_011531210.2:c.11CGG[4], XM_011531210.2:c.11CGG[5], XM_011531210.2:c.11CGG[6], XM_011531210.2:c.11CGG[8], XM_011531210.2:c.11CGG[9], XM_011531210.2:c.11CGG[15], XM_011531210.1:c.11CGG[4], XM_011531210.1:c.11CGG[5], XM_011531210.1:c.11CGG[6], XM_011531210.1:c.11CGG[8], XM_011531210.1:c.11CGG[9], XM_011531210.1:c.11CGG[15], XM_017029924.2:c.11CGG[4], XM_017029924.2:c.11CGG[5], XM_017029924.2:c.11CGG[6], XM_017029924.2:c.11CGG[8], XM_017029924.2:c.11CGG[9], XM_017029924.2:c.11CGG[15], XM_017029924.1:c.11CGG[4], XM_017029924.1:c.11CGG[5], XM_017029924.1:c.11CGG[6], XM_017029924.1:c.11CGG[8], XM_017029924.1:c.11CGG[9], XM_017029924.1:c.11CGG[15], XM_047442604.1:c.11CGG[4], XM_047442604.1:c.11CGG[5], XM_047442604.1:c.11CGG[6], XM_047442604.1:c.11CGG[8], XM_047442604.1:c.11CGG[9], XM_047442604.1:c.11CGG[15], NM_176789.1:c.11CGG[4], NM_176789.1:c.11CGG[5], NM_176789.1:c.11CGG[6], NM_176789.1:c.11CGG[8], NM_176789.1:c.11CGG[9], NM_176789.1:c.11CGG[15], XR_007068204.1:n.146CGG[4], XR_007068204.1:n.146CGG[5], XR_007068204.1:n.146CGG[6], XR_007068204.1:n.146CGG[8], XR_007068204.1:n.146CGG[9], XR_007068204.1:n.146CGG[15], NP_003819.1:p.Ala8_Ala10del, NP_003819.1:p.Ala9_Ala10del, NP_003819.1:p.Ala10del, NP_003819.1:p.Ala10dup, NP_003819.1:p.Ala9_Ala10dup, NP_003819.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, NP_001293073.1:p.Ala8_Ala10del, NP_001293073.1:p.Ala9_Ala10del, NP_001293073.1:p.Ala10del, NP_001293073.1:p.Ala10dup, NP_001293073.1:p.Ala9_Ala10dup, NP_001293073.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, NP_001340919.1:p.Ala8_Ala10del, NP_001340919.1:p.Ala9_Ala10del, NP_001340919.1:p.Ala10del, NP_001340919.1:p.Ala10dup, NP_001340919.1:p.Ala9_Ala10dup, NP_001340919.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, NP_001293074.1:p.Ala8_Ala10del, NP_001293074.1:p.Ala9_Ala10del, NP_001293074.1:p.Ala10del, NP_001293074.1:p.Ala10dup, NP_001293074.1:p.Ala9_Ala10dup, NP_001293074.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_005274822.1:p.Ala8_Ala10del, XP_005274822.1:p.Ala9_Ala10del, XP_005274822.1:p.Ala10del, XP_005274822.1:p.Ala10dup, XP_005274822.1:p.Ala9_Ala10dup, XP_005274822.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_005274823.1:p.Ala8_Ala10del, XP_005274823.1:p.Ala9_Ala10del, XP_005274823.1:p.Ala10del, XP_005274823.1:p.Ala10dup, XP_005274823.1:p.Ala9_Ala10dup, XP_005274823.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_006724918.1:p.Ala8_Ala10del, XP_006724918.1:p.Ala9_Ala10del, XP_006724918.1:p.Ala10del, XP_006724918.1:p.Ala10dup, XP_006724918.1:p.Ala9_Ala10dup, XP_006724918.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_011529512.1:p.Ala8_Ala10del, XP_011529512.1:p.Ala9_Ala10del, XP_011529512.1:p.Ala10del, XP_011529512.1:p.Ala10dup, XP_011529512.1:p.Ala9_Ala10dup, XP_011529512.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_016885413.1:p.Ala8_Ala10del, XP_016885413.1:p.Ala9_Ala10del, XP_016885413.1:p.Ala10del, XP_016885413.1:p.Ala10dup, XP_016885413.1:p.Ala9_Ala10dup, XP_016885413.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla, XP_047298560.1:p.Ala8_Ala10del, XP_047298560.1:p.Ala9_Ala10del, XP_047298560.1:p.Ala10del, XP_047298560.1:p.Ala10dup, XP_047298560.1:p.Ala9_Ala10dup, XP_047298560.1:p.Gly11_Cys12insAlaAlaAlaAlaAlaAlaAlaAla

Select item 138777065320.

rs1387770653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:150693635 (GRCh38)
X:149862108 (GRCh37)
Canonical SPDI:: NC_000023.11:150693634:C:T
Gene:: MTMR1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.150693635C>T, NW_004070890.2:g.6218033C>T, NG_012551.1:g.5240C>T, NM_003828.5:c.105C>T, NM_003828.4:c.105C>T, NM_003828.3:c.105C>T, NM_003828.2:c.105C>T, NM_001306144.3:c.105C>T, NM_001306144.2:c.105C>T, NM_001306144.1:c.105C>T, NR_148676.3:n.240C>T, NR_148676.2:n.240C>T, NR_148676.1:n.272C>T, NM_001353990.2:c.105C>T, NM_001353990.1:c.105C>T, NM_001306145.2:c.105C>T, NM_001306145.1:c.105C>T, NC_000023.10:g.149862108C>T, XM_005274765.4:c.105C>T, XM_005274765.3:c.105C>T, XM_005274765.2:c.105C>T, XM_005274765.1:c.105C>T, XM_005274766.4:c.105C>T, XM_005274766.3:c.105C>T, XM_005274766.2:c.105C>T, XM_005274766.1:c.105C>T, XM_006724855.4:c.105C>T, XM_006724855.3:c.105C>T, XM_006724855.2:c.105C>T, XM_006724855.1:c.105C>T, XM_011531210.3:c.105C>T, XM_011531210.2:c.105C>T, XM_011531210.1:c.105C>T, XM_017029924.2:c.105C>T, XM_017029924.1:c.105C>T, XM_047442604.1:c.105C>T, NM_176789.1:c.105C>T, XR_007068204.1:n.240C>T

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