SNP Links for Protein (Select 189217917) - SNP

Links from Protein

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Select item 14851753071.

rs1485175307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:37028061 (GRCh38)
6:36995837 (GRCh37)
Canonical SPDI:: NC_000006.12:37028060:G:C
Gene:: FGD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37028061G>C, NC_000006.11:g.36995837G>C, NG_051804.1:g.27415G>C, NM_173558.4:c.1866G>C, NM_173558.3:c.1866G>C, XM_047418333.1:c.1266G>C, XM_047418334.1:c.1032G>C, XM_047418335.1:c.750G>C, NP_775829.2:p.Lys622Asn, XP_047274289.1:p.Lys422Asn, XP_047274290.1:p.Lys344Asn, XP_047274291.1:p.Lys250Asn

Select item 14844770592.

rs1484477059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37014667 (GRCh38)
6:36982443 (GRCh37)
Canonical SPDI:: NC_000006.12:37014666:C:T
Gene:: FGD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37014667C>T, NC_000006.11:g.36982443C>T, NG_051804.1:g.14021C>T, NM_173558.4:c.845C>T, NM_173558.3:c.845C>T, XM_011514373.3:c.845C>T, XM_011514373.2:c.845C>T, XM_011514373.1:c.845C>T, XM_011514372.3:c.845C>T, XM_011514372.2:c.845C>T, XM_011514372.1:c.845C>T, XM_047418333.1:c.245C>T, XM_047418334.1:c.11C>T, XM_047418332.1:c.845C>T, XR_926106.1:n.1008C>T, NP_775829.2:p.Ser282Leu, XP_011512675.1:p.Ser282Leu, XP_011512674.1:p.Ser282Leu, XP_047274289.1:p.Ser82Leu, XP_047274290.1:p.Ser4Leu, XP_047274288.1:p.Ser282Leu

Select item 14842107943.

rs1484210794 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:37015802 (GRCh38)
6:36983578 (GRCh37)
Canonical SPDI:: NC_000006.12:37015800:GTG:G
Gene:: FGD2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.37015802_37015803del, NC_000006.11:g.36983578_36983579del, NG_051804.1:g.15156_15157del, NM_173558.4:c.1064_1065del, NM_173558.3:c.1064_1065del, XM_011514373.3:c.1064_1065del, XM_011514373.2:c.1064_1065del, XM_011514373.1:c.1064_1065del, XM_011514372.3:c.1032_1033del, XM_011514372.2:c.1032_1033del, XM_011514372.1:c.1032_1033del, XM_047418333.1:c.464_465del, XM_047418334.1:c.230_231del, XM_047418332.1:c.1064_1065del, XM_047418335.1:c.-53_-52del, XR_926106.1:n.1195_1196del, NP_775829.2:p.Val355fs, XP_011512675.1:p.Val355fs, XP_011512674.1:p.Asp345fs, XP_047274289.1:p.Val155fs, XP_047274290.1:p.Val77fs, XP_047274288.1:p.Val355fs

Select item 14789912794.

rs1478991279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:37027955 (GRCh38)
6:36995731 (GRCh37)
Canonical SPDI:: NC_000006.12:37027954:G:T
Gene:: FGD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37027955G>T, NC_000006.11:g.36995731G>T, NG_051804.1:g.27309G>T, NM_173558.4:c.1760G>T, NM_173558.3:c.1760G>T, XM_047418333.1:c.1160G>T, XM_047418334.1:c.926G>T, XM_047418335.1:c.644G>T, NP_775829.2:p.Arg587Met, XP_047274289.1:p.Arg387Met, XP_047274290.1:p.Arg309Met, XP_047274291.1:p.Arg215Met

Select item 14768112825.

rs1476811282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:37015017 (GRCh38)
6:36982793 (GRCh37)
Canonical SPDI:: NC_000006.12:37015016:C:A,NC_000006.12:37015016:C:T
Gene:: FGD2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37015017C>A, NC_000006.12:g.37015017C>T, NC_000006.11:g.36982793C>A, NC_000006.11:g.36982793C>T, NG_051804.1:g.14371C>A, NG_051804.1:g.14371C>T, NM_173558.4:c.1008C>A, NM_173558.4:c.1008C>T, NM_173558.3:c.1008C>A, NM_173558.3:c.1008C>T, XM_011514373.3:c.1008C>A, XM_011514373.3:c.1008C>T, XM_011514373.2:c.1008C>A, XM_011514373.2:c.1008C>T, XM_011514373.1:c.1008C>A, XM_011514373.1:c.1008C>T, XM_011514372.3:c.1008C>A, XM_011514372.3:c.1008C>T, XM_011514372.2:c.1008C>A, XM_011514372.2:c.1008C>T, XM_011514372.1:c.1008C>A, XM_011514372.1:c.1008C>T, XM_047418333.1:c.408C>A, XM_047418333.1:c.408C>T, XM_047418334.1:c.174C>A, XM_047418334.1:c.174C>T, XM_047418332.1:c.1008C>A, XM_047418332.1:c.1008C>T, XR_926106.1:n.1171C>A, XR_926106.1:n.1171C>T

Select item 14763922736.

rs1476392273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:37020582 (GRCh38)
6:36988358 (GRCh37)
Canonical SPDI:: NC_000006.12:37020581:G:C
Gene:: FGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.37020582G>C, NC_000006.11:g.36988358G>C, NG_051804.1:g.19936G>C, NM_173558.4:c.1164G>C, NM_173558.3:c.1164G>C, XM_047418333.1:c.564G>C, XM_047418334.1:c.330G>C, XM_047418332.1:c.1164G>C, XM_047418335.1:c.48G>C, XR_926106.1:n.1295G>C

Select item 14762496657.

rs1476249665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:37027554 (GRCh38)
6:36995330 (GRCh37)
Canonical SPDI:: NC_000006.12:37027553:C:A,NC_000006.12:37027553:C:T
Gene:: FGD2 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37027554C>A, NC_000006.12:g.37027554C>T, NC_000006.11:g.36995330C>A, NC_000006.11:g.36995330C>T, NG_051804.1:g.26908C>A, NG_051804.1:g.26908C>T, NM_173558.4:c.1731C>A, NM_173558.4:c.1731C>T, NM_173558.3:c.1731C>A, NM_173558.3:c.1731C>T, XM_047418333.1:c.1131C>A, XM_047418333.1:c.1131C>T, XM_047418334.1:c.897C>A, XM_047418334.1:c.897C>T, XM_047418335.1:c.615C>A, XM_047418335.1:c.615C>T

Select item 14742452318.

rs1474245231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:37025927 (GRCh38)
6:36993703 (GRCh37)
Canonical SPDI:: NC_000006.12:37025926:G:A,NC_000006.12:37025926:G:C
Gene:: FGD2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37025927G>A, NC_000006.12:g.37025927G>C, NC_000006.11:g.36993703G>A, NC_000006.11:g.36993703G>C, NG_051804.1:g.25281G>A, NG_051804.1:g.25281G>C, NM_173558.4:c.1594G>A, NM_173558.4:c.1594G>C, NM_173558.3:c.1594G>A, NM_173558.3:c.1594G>C, XM_047418333.1:c.994G>A, XM_047418333.1:c.994G>C, XM_047418334.1:c.760G>A, XM_047418334.1:c.760G>C, XM_047418332.1:c.1594G>A, XM_047418332.1:c.1594G>C, XM_047418335.1:c.478G>A, XM_047418335.1:c.478G>C, NP_775829.2:p.Gly532Ser, NP_775829.2:p.Gly532Arg, XP_047274289.1:p.Gly332Ser, XP_047274289.1:p.Gly332Arg, XP_047274290.1:p.Gly254Ser, XP_047274290.1:p.Gly254Arg, XP_047274288.1:p.Gly532Ser, XP_047274288.1:p.Gly532Arg, XP_047274291.1:p.Gly160Ser, XP_047274291.1:p.Gly160Arg

Select item 14704911859.

rs1470491185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37025855 (GRCh38)
6:36993631 (GRCh37)
Canonical SPDI:: NC_000006.12:37025854:C:T
Gene:: FGD2 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37025855C>T, NC_000006.11:g.36993631C>T, NG_051804.1:g.25209C>T, NM_173558.4:c.1522C>T, NM_173558.3:c.1522C>T, XM_047418333.1:c.922C>T, XM_047418334.1:c.688C>T, XM_047418332.1:c.1522C>T, XM_047418335.1:c.406C>T, NP_775829.2:p.Arg508Ter, XP_047274289.1:p.Arg308Ter, XP_047274290.1:p.Arg230Ter, XP_047274288.1:p.Arg508Ter, XP_047274291.1:p.Arg136Ter

Select item 146941801910.

rs1469418019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37011806 (GRCh38)
6:36979582 (GRCh37)
Canonical SPDI:: NC_000006.12:37011805:T:C
Gene:: FGD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37011806T>C, NC_000006.11:g.36979582T>C, NG_051804.1:g.11160T>C, NM_173558.4:c.479T>C, NM_173558.3:c.479T>C, XM_011514373.3:c.479T>C, XM_011514373.2:c.479T>C, XM_011514373.1:c.479T>C, XM_011514372.3:c.479T>C, XM_011514372.2:c.479T>C, XM_011514372.1:c.479T>C, XM_047418333.1:c.-117T>C, XM_047418332.1:c.479T>C, XR_926106.1:n.642T>C, NP_775829.2:p.Phe160Ser, XP_011512675.1:p.Phe160Ser, XP_011512674.1:p.Phe160Ser, XP_047274288.1:p.Phe160Ser

Select item 146858550811.

rs1468585508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:37015819 (GRCh38)
6:36983595 (GRCh37)
Canonical SPDI:: NC_000006.12:37015818:C:T
Gene:: FGD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.37015819C>T, NC_000006.11:g.36983595C>T, NG_051804.1:g.15173C>T, NM_173558.4:c.1081C>T, NM_173558.3:c.1081C>T, XM_011514373.3:c.1081C>T, XM_011514373.2:c.1081C>T, XM_011514373.1:c.1081C>T, XM_011514372.3:c.1049C>T, XM_011514372.2:c.1049C>T, XM_011514372.1:c.1049C>T, XM_047418333.1:c.481C>T, XM_047418334.1:c.247C>T, XM_047418332.1:c.1081C>T, XM_047418335.1:c.-36C>T, XR_926106.1:n.1212C>T, NP_775829.2:p.Gln361Ter, XP_011512675.1:p.Gln361Ter, XP_011512674.1:p.Pro350Leu, XP_047274289.1:p.Gln161Ter, XP_047274290.1:p.Gln83Ter, XP_047274288.1:p.Gln361Ter

Select item 146695376312.

rs1466953763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:37011048 (GRCh38)
6:36978824 (GRCh37)
Canonical SPDI:: NC_000006.12:37011047:C:G,NC_000006.12:37011047:C:T
Gene:: FGD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37011048C>G, NC_000006.12:g.37011048C>T, NC_000006.11:g.36978824C>G, NC_000006.11:g.36978824C>T, NG_051804.1:g.10402C>G, NG_051804.1:g.10402C>T, NM_173558.4:c.376C>G, NM_173558.4:c.376C>T, NM_173558.3:c.376C>G, NM_173558.3:c.376C>T, XM_011514373.3:c.376C>G, XM_011514373.3:c.376C>T, XM_011514373.2:c.376C>G, XM_011514373.2:c.376C>T, XM_011514373.1:c.376C>G, XM_011514373.1:c.376C>T, XM_011514372.3:c.376C>G, XM_011514372.3:c.376C>T, XM_011514372.2:c.376C>G, XM_011514372.2:c.376C>T, XM_011514372.1:c.376C>G, XM_011514372.1:c.376C>T, XM_047418332.1:c.376C>G, XM_047418332.1:c.376C>T, XR_926106.1:n.539C>G, XR_926106.1:n.539C>T, NP_775829.2:p.Gln126Glu, NP_775829.2:p.Gln126Ter, XP_011512675.1:p.Gln126Glu, XP_011512675.1:p.Gln126Ter, XP_011512674.1:p.Gln126Glu, XP_011512674.1:p.Gln126Ter, XP_047274288.1:p.Gln126Glu, XP_047274288.1:p.Gln126Ter

Select item 146679525213.

rs1466795252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:37013765 (GRCh38)
6:36981541 (GRCh37)
Canonical SPDI:: NC_000006.12:37013764:G:C
Gene:: FGD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37013765G>C, NC_000006.11:g.36981541G>C, NG_051804.1:g.13119G>C, NM_173558.4:c.684G>C, NM_173558.3:c.684G>C, XM_011514373.3:c.684G>C, XM_011514373.2:c.684G>C, XM_011514373.1:c.684G>C, XM_011514372.3:c.684G>C, XM_011514372.2:c.684G>C, XM_011514372.1:c.684G>C, XM_047418333.1:c.89G>C, XM_047418334.1:c.-12G>C, XM_047418332.1:c.684G>C, XR_926106.1:n.847G>C, NP_775829.2:p.Gln228His, XP_011512675.1:p.Gln228His, XP_011512674.1:p.Gln228His, XP_047274289.1:p.Ser30Thr, XP_047274288.1:p.Gln228His

Select item 146032320714.

rs1460323207 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 6:37010986 (GRCh38)
6:36978762 (GRCh37)
Canonical SPDI:: NC_000006.12:37010979:AGAAGAAGA:AGAAGA
Gene:: FGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37010980AGA[2], NC_000006.11:g.36978756AGA[2], NG_051804.1:g.10334AGA[2], NM_173558.4:c.308AGA[2], NM_173558.3:c.308AGA[2], XM_011514373.3:c.308AGA[2], XM_011514373.2:c.308AGA[2], XM_011514373.1:c.308AGA[2], XM_011514372.3:c.308AGA[2], XM_011514372.2:c.308AGA[2], XM_011514372.1:c.308AGA[2], XM_047418332.1:c.308AGA[2], XR_926106.1:n.471AGA[2], NP_775829.2:p.Lys105del, XP_011512675.1:p.Lys105del, XP_011512674.1:p.Lys105del, XP_047274288.1:p.Lys105del

Select item 145919033515.

rs1459190335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37013744 (GRCh38)
6:36981520 (GRCh37)
Canonical SPDI:: NC_000006.12:37013743:G:A
Gene:: FGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.37013744G>A, NC_000006.11:g.36981520G>A, NG_051804.1:g.13098G>A, NM_173558.4:c.663G>A, NM_173558.3:c.663G>A, XM_011514373.3:c.663G>A, XM_011514373.2:c.663G>A, XM_011514373.1:c.663G>A, XM_011514372.3:c.663G>A, XM_011514372.2:c.663G>A, XM_011514372.1:c.663G>A, XM_047418333.1:c.68G>A, XM_047418334.1:c.-33G>A, XM_047418332.1:c.663G>A, XR_926106.1:n.826G>A, XP_047274289.1:p.Arg23Lys

Select item 145727583416.

rs1457275834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:37013690 (GRCh38)
6:36981466 (GRCh37)
Canonical SPDI:: NC_000006.12:37013689:T:C
Gene:: FGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37013690T>C, NC_000006.11:g.36981466T>C, NG_051804.1:g.13044T>C, NM_173558.4:c.609T>C, NM_173558.3:c.609T>C, XM_011514373.3:c.609T>C, XM_011514373.2:c.609T>C, XM_011514373.1:c.609T>C, XM_011514372.3:c.609T>C, XM_011514372.2:c.609T>C, XM_011514372.1:c.609T>C, XM_047418333.1:c.14T>C, XM_047418334.1:c.-87T>C, XM_047418332.1:c.609T>C, XR_926106.1:n.772T>C, XP_047274289.1:p.Leu5Ser

Select item 145705583617.

rs1457055836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:37015830 (GRCh38)
6:36983606 (GRCh37)
Canonical SPDI:: NC_000006.12:37015829:G:A
Gene:: FGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.37015830G>A, NC_000006.11:g.36983606G>A, NG_051804.1:g.15184G>A, NM_173558.4:c.1092G>A, NM_173558.3:c.1092G>A, XM_011514373.3:c.1092G>A, XM_011514373.2:c.1092G>A, XM_011514373.1:c.1092G>A, XM_011514372.3:c.1060G>A, XM_011514372.2:c.1060G>A, XM_011514372.1:c.1060G>A, XM_047418333.1:c.492G>A, XM_047418334.1:c.258G>A, XM_047418332.1:c.1092G>A, XM_047418335.1:c.-25G>A, XR_926106.1:n.1223G>A, XP_011512674.1:p.Glu354Lys

Select item 145268940018.

rs1452689400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:37011000 (GRCh38)
6:36978776 (GRCh37)
Canonical SPDI:: NC_000006.12:37010999:C:G
Gene:: FGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37011000C>G, NC_000006.11:g.36978776C>G, NG_051804.1:g.10354C>G, NM_173558.4:c.328C>G, NM_173558.3:c.328C>G, XM_011514373.3:c.328C>G, XM_011514373.2:c.328C>G, XM_011514373.1:c.328C>G, XM_011514372.3:c.328C>G, XM_011514372.2:c.328C>G, XM_011514372.1:c.328C>G, XM_047418332.1:c.328C>G, XR_926106.1:n.491C>G, NP_775829.2:p.Leu110Val, XP_011512675.1:p.Leu110Val, XP_011512674.1:p.Leu110Val, XP_047274288.1:p.Leu110Val

Select item 145256963119.

rs1452569631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:37008926 (GRCh38)
6:36976702 (GRCh37)
Canonical SPDI:: NC_000006.12:37008925:A:G
Gene:: FGD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.37008926A>G, NC_000006.11:g.36976702A>G, NG_051804.1:g.8280A>G, NM_173558.4:c.161A>G, NM_173558.3:c.161A>G, XM_011514373.3:c.161A>G, XM_011514373.2:c.161A>G, XM_011514373.1:c.161A>G, XM_011514372.3:c.161A>G, XM_011514372.2:c.161A>G, XM_011514372.1:c.161A>G, XM_047418332.1:c.161A>G, XR_926106.1:n.324A>G, NP_775829.2:p.Lys54Arg, XP_011512675.1:p.Lys54Arg, XP_011512674.1:p.Lys54Arg, XP_047274288.1:p.Lys54Arg

Select item 145254802820.

rs1452548028 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:37020559 (GRCh38)
6:36988335 (GRCh37)
Canonical SPDI:: NC_000006.12:37020558:GC:
Gene:: FGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.37020559_37020560del, NC_000006.11:g.36988335_36988336del, NG_051804.1:g.19913_19914del, NM_173558.4:c.1141_1142del, NM_173558.3:c.1141_1142del, XM_047418333.1:c.541_542del, XM_047418334.1:c.307_308del, XM_047418332.1:c.1141_1142del, XM_047418335.1:c.25_26del, XR_926106.1:n.1272_1273del, NP_775829.2:p.Asp380_Ala381insTer, XP_047274289.1:p.Asp180_Ala181insTer, XP_047274290.1:p.Asp102_Ala103insTer, XP_047274288.1:p.Asp380_Ala381insTer, XP_047274291.1:p.Asp8_Ala9insTer

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