SNP Links for Protein (Select 7661568) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 482

<< First< Prev

Page of 25

Select item 14905617021.

rs1490561702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83172007 (GRCh38)
6:83881726 (GRCh37)
Canonical SPDI:: NC_000006.12:83172006:A:G
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83172007A>G, NC_000006.11:g.83881726A>G, NG_034146.2:g.26894T>C, NM_015599.3:c.1295T>C, NM_015599.2:c.1295T>C, NM_001199917.2:c.1379T>C, NM_001199917.1:c.1379T>C, NM_001199918.2:c.1052T>C, NM_001199918.1:c.1052T>C, NR_159812.2:n.1384T>C, NR_159812.1:n.1384T>C, NM_001199919.2:c.1295T>C, NM_001199919.1:c.1295T>C, NM_001367287.1:c.1379T>C, XR_001743468.3:n.1178T>C, XR_001743468.2:n.1179T>C, XR_001743468.1:n.1179T>C, XR_942480.3:n.1178T>C, XR_942480.2:n.1179T>C, XR_942480.1:n.1179T>C, XM_017010935.2:c.1052T>C, XM_017010935.1:c.1052T>C, XR_007059273.1:n.1384T>C, XR_007059272.1:n.1375T>C, XR_007059270.1:n.1178T>C, XR_007059271.1:n.1375T>C, XM_047418876.1:c.1295T>C, NP_056414.1:p.Leu432Pro, NP_001186846.1:p.Leu460Pro, NP_001186847.1:p.Leu351Pro, NP_001186848.1:p.Leu432Pro, NP_001354216.1:p.Leu460Pro, XP_016866424.1:p.Leu351Pro, XP_047274832.1:p.Leu432Pro

Select item 14904368942.

rs1490436894 has merged into rs764377394 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:83190851 (GRCh38)
6:83900570 (GRCh37)
Canonical SPDI:: NC_000006.12:83190850:TTTT:TTT,NC_000006.12:83190850:TTTT:TTTTT
Gene:: PGM3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.83190854del, NC_000006.12:g.83190854dup, NC_000006.11:g.83900573del, NC_000006.11:g.83900573dup, NG_034146.2:g.8050del, NG_034146.2:g.8050dup, NM_015599.3:c.162del, NM_015599.3:c.162dup, NM_015599.2:c.162del, NM_015599.2:c.162dup, NM_001199917.2:c.246del, NM_001199917.2:c.246dup, NM_001199917.1:c.246del, NM_001199917.1:c.246dup, NR_159812.2:n.251del, NR_159812.2:n.251dup, NR_159812.1:n.251del, NR_159812.1:n.251dup, NM_001199919.2:c.162del, NM_001199919.2:c.162dup, NM_001199919.1:c.162del, NM_001199919.1:c.162dup, NM_001367287.1:c.246del, NM_001367287.1:c.246dup, NM_001367286.1:c.162del, NM_001367286.1:c.162dup, XR_007059273.1:n.251del, XR_007059273.1:n.251dup, XR_007059272.1:n.242del, XR_007059272.1:n.242dup, XM_047418877.1:c.162del, XM_047418877.1:c.162dup, XR_007059271.1:n.242del, XR_007059271.1:n.242dup, XM_047418876.1:c.162del, XM_047418876.1:c.162dup, NP_056414.1:p.Lys54fs, NP_056414.1:p.Ser55fs, NP_001186846.1:p.Lys82fs, NP_001186846.1:p.Ser83fs, NP_001186848.1:p.Lys54fs, NP_001186848.1:p.Ser55fs, NP_001354216.1:p.Lys82fs, NP_001354216.1:p.Ser83fs, NP_001354215.1:p.Lys54fs, NP_001354215.1:p.Ser55fs, XP_047274833.1:p.Lys54fs, XP_047274833.1:p.Ser55fs, XP_047274832.1:p.Lys54fs, XP_047274832.1:p.Ser55fs

Select item 14854285673.

rs1485428567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:83169259 (GRCh38)
6:83878978 (GRCh37)
Canonical SPDI:: NC_000006.12:83169258:C:G
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.83169259C>G, NC_000006.11:g.83878978C>G, NG_034146.2:g.29642G>C, NM_015599.3:c.1604G>C, NM_015599.2:c.1604G>C, NM_001199917.2:c.1688G>C, NM_001199917.1:c.1688G>C, NM_001199918.2:c.*39G>C, NM_001199918.1:c.*39G>C, NR_159812.2:n.1693G>C, NR_159812.1:n.1693G>C, NM_001199919.2:c.1604G>C, NM_001199919.1:c.1604G>C, NM_001367287.1:c.1688G>C, NM_001367286.1:c.1481G>C, XR_001743468.3:n.1487G>C, XR_001743468.2:n.1488G>C, XR_001743468.1:n.1488G>C, XR_942480.3:n.1487G>C, XR_942480.2:n.1488G>C, XR_942480.1:n.1488G>C, XM_017010935.2:c.1361G>C, XM_017010935.1:c.1361G>C, XM_017010937.2:c.1238G>C, XM_017010937.1:c.1238G>C, XR_007059273.1:n.1693G>C, XR_007059272.1:n.1684G>C, XM_047418442.1:c.*1092C>G, XM_047418447.1:c.*1092C>G, XM_047418446.1:c.*1092C>G, XM_047418450.1:c.*1092C>G, XM_047418451.1:c.*1092C>G, XM_047418449.1:c.*1092C>G, XM_047418455.1:c.*1092C>G, XR_007059270.1:n.1487G>C, XM_047418877.1:c.1481G>C, XR_007059271.1:n.1684G>C, XM_047418876.1:c.1604G>C, NP_056414.1:p.Gly535Ala, NP_001186846.1:p.Gly563Ala, NP_001186848.1:p.Gly535Ala, NP_001354216.1:p.Gly563Ala, NP_001354215.1:p.Gly494Ala, XP_016866424.1:p.Gly454Ala, XP_016866426.1:p.Gly413Ala, XP_047274833.1:p.Gly494Ala, XP_047274832.1:p.Gly535Ala

Select item 14847148434.

rs1484714843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:83190867 (GRCh38)
6:83900586 (GRCh37)
Canonical SPDI:: NC_000006.12:83190866:C:A
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83190867C>A, NC_000006.11:g.83900586C>A, NG_034146.2:g.8034G>T, NM_015599.3:c.146G>T, NM_015599.2:c.146G>T, NM_001199917.2:c.230G>T, NM_001199917.1:c.230G>T, NR_159812.2:n.235G>T, NR_159812.1:n.235G>T, NM_001199919.2:c.146G>T, NM_001199919.1:c.146G>T, NM_001367287.1:c.230G>T, NM_001367286.1:c.146G>T, XR_007059273.1:n.235G>T, XR_007059272.1:n.226G>T, XM_047418877.1:c.146G>T, XR_007059271.1:n.226G>T, XM_047418876.1:c.146G>T, NP_056414.1:p.Arg49Met, NP_001186846.1:p.Arg77Met, NP_001186848.1:p.Arg49Met, NP_001354216.1:p.Arg77Met, NP_001354215.1:p.Arg49Met, XP_047274833.1:p.Arg49Met, XP_047274832.1:p.Arg49Met

Select item 14834005675.

rs1483400567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83190908 (GRCh38)
6:83900627 (GRCh37)
Canonical SPDI:: NC_000006.12:83190907:A:G
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83190908A>G, NC_000006.11:g.83900627A>G, NG_034146.2:g.7993T>C, NM_015599.3:c.105T>C, NM_015599.2:c.105T>C, NM_001199917.2:c.189T>C, NM_001199917.1:c.189T>C, NR_159812.2:n.194T>C, NR_159812.1:n.194T>C, NM_001199919.2:c.105T>C, NM_001199919.1:c.105T>C, NM_001367287.1:c.189T>C, NM_001367286.1:c.105T>C, XR_007059273.1:n.194T>C, XR_007059272.1:n.185T>C, XM_047418877.1:c.105T>C, XR_007059271.1:n.185T>C, XM_047418876.1:c.105T>C

Select item 14828747836.

rs1482874783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:83179919 (GRCh38)
6:83889638 (GRCh37)
Canonical SPDI:: NC_000006.12:83179918:G:T
Gene:: PGM3 (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=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83179919G>T, NC_000006.11:g.83889638G>T, NG_034146.2:g.18982C>A, NM_015599.3:c.836C>A, NM_015599.2:c.836C>A, NM_001199917.2:c.920C>A, NM_001199917.1:c.920C>A, NM_001199918.2:c.593C>A, NM_001199918.1:c.593C>A, NR_159812.2:n.925C>A, NR_159812.1:n.925C>A, NM_001199919.2:c.836C>A, NM_001199919.1:c.836C>A, NM_001367287.1:c.920C>A, NM_001367286.1:c.836C>A, XR_001743468.3:n.719C>A, XR_001743468.2:n.720C>A, XR_001743468.1:n.720C>A, XR_942480.3:n.719C>A, XR_942480.2:n.720C>A, XR_942480.1:n.720C>A, XM_017010935.2:c.593C>A, XM_017010935.1:c.593C>A, XM_017010937.2:c.593C>A, XM_017010937.1:c.593C>A, XR_007059273.1:n.925C>A, XR_007059272.1:n.916C>A, XR_007059270.1:n.719C>A, XM_047418877.1:c.836C>A, XR_007059271.1:n.916C>A, XM_047418876.1:c.836C>A, NP_056414.1:p.Ala279Glu, NP_001186846.1:p.Ala307Glu, NP_001186847.1:p.Ala198Glu, NP_001186848.1:p.Ala279Glu, NP_001354216.1:p.Ala307Glu, NP_001354215.1:p.Ala279Glu, XP_016866424.1:p.Ala198Glu, XP_016866426.1:p.Ala198Glu, XP_047274833.1:p.Ala279Glu, XP_047274832.1:p.Ala279Glu

Select item 14812918747.

rs1481291874 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:83179966 (GRCh38)
6:83889686 (GRCh37)
Canonical SPDI:: NC_000006.12:83179966:CC:CCC
Gene:: PGM3 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.83179968dup, NC_000006.11:g.83889687dup, NG_034146.2:g.18934dup

Select item 14803062848.

rs1480306284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:83176033 (GRCh38)
6:83885752 (GRCh37)
Canonical SPDI:: NC_000006.12:83176032:C:T
Gene:: PGM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83176033C>T, NC_000006.11:g.83885752C>T, NG_034146.2:g.22868G>A, NM_015599.3:c.1057G>A, NM_015599.2:c.1057G>A, NM_001199917.2:c.1141G>A, NM_001199917.1:c.1141G>A, NM_001199918.2:c.814G>A, NM_001199918.1:c.814G>A, NR_159812.2:n.1146G>A, NR_159812.1:n.1146G>A, NM_001199919.2:c.1057G>A, NM_001199919.1:c.1057G>A, NM_001367287.1:c.1141G>A, NM_001367286.1:c.1057G>A, XR_001743468.3:n.940G>A, XR_001743468.2:n.941G>A, XR_001743468.1:n.941G>A, XR_942480.3:n.940G>A, XR_942480.2:n.941G>A, XR_942480.1:n.941G>A, XM_017010935.2:c.814G>A, XM_017010935.1:c.814G>A, XM_017010937.2:c.814G>A, XM_017010937.1:c.814G>A, XR_007059273.1:n.1146G>A, XR_007059272.1:n.1137G>A, XR_007059270.1:n.940G>A, XM_047418877.1:c.1057G>A, XR_007059271.1:n.1137G>A, XM_047418876.1:c.1057G>A, NP_056414.1:p.Val353Ile, NP_001186846.1:p.Val381Ile, NP_001186847.1:p.Val272Ile, NP_001186848.1:p.Val353Ile, NP_001354216.1:p.Val381Ile, NP_001354215.1:p.Val353Ile, XP_016866424.1:p.Val272Ile, XP_016866426.1:p.Val272Ile, XP_047274833.1:p.Val353Ile, XP_047274832.1:p.Val353Ile

Select item 14780163859.

rs1478016385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83182952 (GRCh38)
6:83892671 (GRCh37)
Canonical SPDI:: NC_000006.12:83182951:G:A
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83182952G>A, NC_000006.11:g.83892671G>A, NG_034146.2:g.15949C>T, NM_015599.3:c.484C>T, NM_015599.2:c.484C>T, NM_001199917.2:c.568C>T, NM_001199917.1:c.568C>T, NM_001199918.2:c.241C>T, NM_001199918.1:c.241C>T, NR_159812.2:n.573C>T, NR_159812.1:n.573C>T, NM_001199919.2:c.484C>T, NM_001199919.1:c.484C>T, NM_001367287.1:c.568C>T, NM_001367286.1:c.484C>T, XR_001743468.3:n.367C>T, XR_001743468.2:n.368C>T, XR_001743468.1:n.368C>T, XR_942480.3:n.367C>T, XR_942480.2:n.368C>T, XR_942480.1:n.368C>T, XM_017010935.2:c.241C>T, XM_017010935.1:c.241C>T, XM_017010937.2:c.241C>T, XM_017010937.1:c.241C>T, XR_007059273.1:n.573C>T, XR_007059272.1:n.564C>T, XR_007059270.1:n.367C>T, XM_047418877.1:c.484C>T, XR_007059271.1:n.564C>T, XM_047418876.1:c.484C>T

Select item 147196259710.

rs1471962597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:83178734 (GRCh38)
6:83888453 (GRCh37)
Canonical SPDI:: NC_000006.12:83178733:C:G
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83178734C>G, NC_000006.11:g.83888453C>G, NG_034146.2:g.20167G>C, NM_015599.3:c.968G>C, NM_015599.2:c.968G>C, NM_001199917.2:c.1052G>C, NM_001199917.1:c.1052G>C, NM_001199918.2:c.725G>C, NM_001199918.1:c.725G>C, NR_159812.2:n.1057G>C, NR_159812.1:n.1057G>C, NM_001199919.2:c.968G>C, NM_001199919.1:c.968G>C, NM_001367287.1:c.1052G>C, NM_001367286.1:c.968G>C, XR_001743468.3:n.851G>C, XR_001743468.2:n.852G>C, XR_001743468.1:n.852G>C, XR_942480.3:n.851G>C, XR_942480.2:n.852G>C, XR_942480.1:n.852G>C, XM_017010935.2:c.725G>C, XM_017010935.1:c.725G>C, XM_017010937.2:c.725G>C, XM_017010937.1:c.725G>C, XR_007059273.1:n.1057G>C, XR_007059272.1:n.1048G>C, XR_007059270.1:n.851G>C, XM_047418877.1:c.968G>C, XR_007059271.1:n.1048G>C, XM_047418876.1:c.968G>C, NP_056414.1:p.Gly323Ala, NP_001186846.1:p.Gly351Ala, NP_001186847.1:p.Gly242Ala, NP_001186848.1:p.Gly323Ala, NP_001354216.1:p.Gly351Ala, NP_001354215.1:p.Gly323Ala, XP_016866424.1:p.Gly242Ala, XP_016866426.1:p.Gly242Ala, XP_047274833.1:p.Gly323Ala, XP_047274832.1:p.Gly323Ala

Select item 147132839711.

rs1471328397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCTT [Show Flanks]
Chromosome:: 6:83174453 (GRCh38)
6:83884173 (GRCh37)
Canonical SPDI:: NC_000006.12:83174453:TTATCTT:TTATCTTATCTT
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa
MAF:: TTATCTTATCTT=0.000071/1 (ALFA)
TTATC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83174456_83174460dup, NC_000006.11:g.83884175_83884179dup, NG_034146.2:g.24443_24447dup, NM_015599.3:c.1158_1162dup, NM_015599.2:c.1158_1162dup, NM_001199917.2:c.1242_1246dup, NM_001199917.1:c.1242_1246dup, NM_001199918.2:c.915_919dup, NM_001199918.1:c.915_919dup, NR_159812.2:n.1247_1251dup, NR_159812.1:n.1247_1251dup, NM_001199919.2:c.1158_1162dup, NM_001199919.1:c.1158_1162dup, NM_001367287.1:c.1242_1246dup, NM_001367286.1:c.1158_1162dup, XR_001743468.3:n.1041_1045dup, XR_001743468.2:n.1042_1046dup, XR_001743468.1:n.1042_1046dup, XR_942480.3:n.1041_1045dup, XR_942480.2:n.1042_1046dup, XR_942480.1:n.1042_1046dup, XM_017010935.2:c.915_919dup, XM_017010935.1:c.915_919dup, XM_017010937.2:c.915_919dup, XM_017010937.1:c.915_919dup, XR_007059273.1:n.1247_1251dup, XR_007059272.1:n.1238_1242dup, XR_007059270.1:n.1041_1045dup, XM_047418877.1:c.1158_1162dup, XR_007059271.1:n.1238_1242dup, XM_047418876.1:c.1158_1162dup, NP_056414.1:p.Lys388delinsArgTer, NP_001186846.1:p.Lys416delinsArgTer, NP_001186847.1:p.Lys307delinsArgTer, NP_001186848.1:p.Lys388delinsArgTer, NP_001354216.1:p.Lys416delinsArgTer, NP_001354215.1:p.Lys388delinsArgTer, XP_016866424.1:p.Lys307delinsArgTer, XP_016866426.1:p.Lys307delinsArgTer, XP_047274833.1:p.Lys388delinsArgTer, XP_047274832.1:p.Lys388delinsArgTer

Select item 147082705212.

rs1470827052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83170470 (GRCh38)
6:83880189 (GRCh37)
Canonical SPDI:: NC_000006.12:83170469:G:A
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83170470G>A, NC_000006.11:g.83880189G>A, NG_034146.2:g.28431C>T, NM_015599.3:c.1374C>T, NM_015599.2:c.1374C>T, NM_001199917.2:c.1458C>T, NM_001199917.1:c.1458C>T, NM_001199918.2:c.1131C>T, NM_001199918.1:c.1131C>T, NR_159812.2:n.1463C>T, NR_159812.1:n.1463C>T, NM_001199919.2:c.1374C>T, NM_001199919.1:c.1374C>T, NM_001367287.1:c.1458C>T, NM_001367286.1:c.1251C>T, XM_011535619.3:c.*828G>A, XM_011535619.2:c.*828G>A, XM_017010560.3:c.*828G>A, XM_017010560.2:c.*828G>A, XM_017010560.1:c.*828G>A, XM_017010562.3:c.*828G>A, XM_017010562.2:c.*828G>A, XM_017010562.1:c.*828G>A, XR_001743468.3:n.1257C>T, XR_001743468.2:n.1258C>T, XR_001743468.1:n.1258C>T, XR_942480.3:n.1257C>T, XR_942480.2:n.1258C>T, XR_942480.1:n.1258C>T, XM_017010559.2:c.*828G>A, XM_017010559.1:c.*828G>A, XM_017010561.2:c.*828G>A, XM_017010561.1:c.*828G>A, XM_017010564.2:c.*828G>A, XM_017010564.1:c.*828G>A, XM_017010570.2:c.*828G>A, XM_017010570.1:c.*828G>A, XM_017010571.2:c.*828G>A, XM_017010571.1:c.*828G>A, XM_017010572.2:c.*828G>A, XM_017010572.1:c.*828G>A, XM_017010935.2:c.1131C>T, XM_017010935.1:c.1131C>T, XM_017010937.2:c.1008C>T, XM_017010937.1:c.1008C>T, XR_007059273.1:n.1463C>T, XR_007059272.1:n.1454C>T, XM_047418442.1:c.*1549G>A, XM_047418447.1:c.*1549G>A, XM_047418446.1:c.*1549G>A, XM_047418450.1:c.*1549G>A, XM_047418451.1:c.*1549G>A, XM_047418449.1:c.*1549G>A, XM_047418428.1:c.*828G>A, XM_047418431.1:c.*828G>A, XM_047418455.1:c.*1549G>A, NR_169791.1:n.8454G>A, XM_047418434.1:c.*828G>A, XM_047418436.1:c.*828G>A, XM_047418430.1:c.*828G>A, XM_047418440.1:c.*828G>A, XM_047418441.1:c.*828G>A, XM_047418432.1:c.*828G>A, XM_047418443.1:c.*828G>A, XM_047418433.1:c.*828G>A, XM_047418435.1:c.*828G>A, XM_047418445.1:c.*828G>A, XM_047418438.1:c.*828G>A, XM_047418448.1:c.*828G>A, XM_047418439.1:c.*828G>A, XM_047418444.1:c.*828G>A, XM_047418452.1:c.*828G>A, XM_047418453.1:c.*828G>A, XR_007059270.1:n.1257C>T, XM_047418877.1:c.1251C>T, XR_007059271.1:n.1454C>T, XM_047418876.1:c.1374C>T

Select item 146986247113.

rs1469862471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:83170463 (GRCh38)
6:83880182 (GRCh37)
Canonical SPDI:: NC_000006.12:83170462:C:G,NC_000006.12:83170462:C:T
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83170463C>G, NC_000006.12:g.83170463C>T, NC_000006.11:g.83880182C>G, NC_000006.11:g.83880182C>T, NG_034146.2:g.28438G>C, NG_034146.2:g.28438G>A, NM_015599.3:c.1381G>C, NM_015599.3:c.1381G>A, NM_015599.2:c.1381G>C, NM_015599.2:c.1381G>A, NM_001199917.2:c.1465G>C, NM_001199917.2:c.1465G>A, NM_001199917.1:c.1465G>C, NM_001199917.1:c.1465G>A, NM_001199918.2:c.1138G>C, NM_001199918.2:c.1138G>A, NM_001199918.1:c.1138G>C, NM_001199918.1:c.1138G>A, NR_159812.2:n.1470G>C, NR_159812.2:n.1470G>A, NR_159812.1:n.1470G>C, NR_159812.1:n.1470G>A, NM_001199919.2:c.1381G>C, NM_001199919.2:c.1381G>A, NM_001199919.1:c.1381G>C, NM_001199919.1:c.1381G>A, NM_001367287.1:c.1465G>C, NM_001367287.1:c.1465G>A, NM_001367286.1:c.1258G>C, NM_001367286.1:c.1258G>A, XM_011535619.3:c.*821C>G, XM_011535619.3:c.*821C>T, XM_011535619.2:c.*821C>G, XM_011535619.2:c.*821C>T, XM_017010560.3:c.*821C>G, XM_017010560.3:c.*821C>T, XM_017010560.2:c.*821C>G, XM_017010560.2:c.*821C>T, XM_017010560.1:c.*821C>G, XM_017010560.1:c.*821C>T, XM_017010562.3:c.*821C>G, XM_017010562.3:c.*821C>T, XM_017010562.2:c.*821C>G, XM_017010562.2:c.*821C>T, XM_017010562.1:c.*821C>G, XM_017010562.1:c.*821C>T, XR_001743468.3:n.1264G>C, XR_001743468.3:n.1264G>A, XR_001743468.2:n.1265G>C, XR_001743468.2:n.1265G>A, XR_001743468.1:n.1265G>C, XR_001743468.1:n.1265G>A, XR_942480.3:n.1264G>C, XR_942480.3:n.1264G>A, XR_942480.2:n.1265G>C, XR_942480.2:n.1265G>A, XR_942480.1:n.1265G>C, XR_942480.1:n.1265G>A, XM_017010559.2:c.*821C>G, XM_017010559.2:c.*821C>T, XM_017010559.1:c.*821C>G, XM_017010559.1:c.*821C>T, XM_017010561.2:c.*821C>G, XM_017010561.2:c.*821C>T, XM_017010561.1:c.*821C>G, XM_017010561.1:c.*821C>T, XM_017010564.2:c.*821C>G, XM_017010564.2:c.*821C>T, XM_017010564.1:c.*821C>G, XM_017010564.1:c.*821C>T, XM_017010570.2:c.*821C>G, XM_017010570.2:c.*821C>T, XM_017010570.1:c.*821C>G, XM_017010570.1:c.*821C>T, XM_017010571.2:c.*821C>G, XM_017010571.2:c.*821C>T, XM_017010571.1:c.*821C>G, XM_017010571.1:c.*821C>T, XM_017010572.2:c.*821C>G, XM_017010572.2:c.*821C>T, XM_017010572.1:c.*821C>G, XM_017010572.1:c.*821C>T, XM_017010935.2:c.1138G>C, XM_017010935.2:c.1138G>A, XM_017010935.1:c.1138G>C, XM_017010935.1:c.1138G>A, XM_017010937.2:c.1015G>C, XM_017010937.2:c.1015G>A, XM_017010937.1:c.1015G>C, XM_017010937.1:c.1015G>A, XR_007059273.1:n.1470G>C, XR_007059273.1:n.1470G>A, XR_007059272.1:n.1461G>C, XR_007059272.1:n.1461G>A, XM_047418442.1:c.*1542C>G, XM_047418442.1:c.*1542C>T, XM_047418447.1:c.*1542C>G, XM_047418447.1:c.*1542C>T, XM_047418446.1:c.*1542C>G, XM_047418446.1:c.*1542C>T, XM_047418450.1:c.*1542C>G, XM_047418450.1:c.*1542C>T, XM_047418451.1:c.*1542C>G, XM_047418451.1:c.*1542C>T, XM_047418449.1:c.*1542C>G, XM_047418449.1:c.*1542C>T, XM_047418428.1:c.*821C>G, XM_047418428.1:c.*821C>T, XM_047418431.1:c.*821C>G, XM_047418431.1:c.*821C>T, XM_047418455.1:c.*1542C>G, XM_047418455.1:c.*1542C>T, NR_169791.1:n.8447C>G, NR_169791.1:n.8447C>T, XM_047418434.1:c.*821C>G, XM_047418434.1:c.*821C>T, XM_047418436.1:c.*821C>G, XM_047418436.1:c.*821C>T, XM_047418430.1:c.*821C>G, XM_047418430.1:c.*821C>T, XM_047418440.1:c.*821C>G, XM_047418440.1:c.*821C>T, XM_047418441.1:c.*821C>G, XM_047418441.1:c.*821C>T, XM_047418432.1:c.*821C>G, XM_047418432.1:c.*821C>T, XM_047418443.1:c.*821C>G, XM_047418443.1:c.*821C>T, XM_047418433.1:c.*821C>G, XM_047418433.1:c.*821C>T, XM_047418435.1:c.*821C>G, XM_047418435.1:c.*821C>T, XM_047418445.1:c.*821C>G, XM_047418445.1:c.*821C>T, XM_047418438.1:c.*821C>G, XM_047418438.1:c.*821C>T, XM_047418448.1:c.*821C>G, XM_047418448.1:c.*821C>T, XM_047418439.1:c.*821C>G, XM_047418439.1:c.*821C>T, XM_047418444.1:c.*821C>G, XM_047418444.1:c.*821C>T, XM_047418452.1:c.*821C>G, XM_047418452.1:c.*821C>T, XM_047418453.1:c.*821C>G, XM_047418453.1:c.*821C>T, XR_007059270.1:n.1264G>C, XR_007059270.1:n.1264G>A, XM_047418877.1:c.1258G>C, XM_047418877.1:c.1258G>A, XR_007059271.1:n.1461G>C, XR_007059271.1:n.1461G>A, XM_047418876.1:c.1381G>C, XM_047418876.1:c.1381G>A, NP_056414.1:p.Val461Leu, NP_056414.1:p.Val461Ile, NP_001186846.1:p.Val489Leu, NP_001186846.1:p.Val489Ile, NP_001186847.1:p.Val380Leu, NP_001186847.1:p.Val380Ile, NP_001186848.1:p.Val461Leu, NP_001186848.1:p.Val461Ile, NP_001354216.1:p.Val489Leu, NP_001354216.1:p.Val489Ile, NP_001354215.1:p.Val420Leu, NP_001354215.1:p.Val420Ile, XP_016866424.1:p.Val380Leu, XP_016866424.1:p.Val380Ile, XP_016866426.1:p.Val339Leu, XP_016866426.1:p.Val339Ile, XP_047274833.1:p.Val420Leu, XP_047274833.1:p.Val420Ile, XP_047274832.1:p.Val461Leu, XP_047274832.1:p.Val461Ile

Select item 146579301114.

rs1465793011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83190939 (GRCh38)
6:83900658 (GRCh37)
Canonical SPDI:: NC_000006.12:83190938:G:A
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.83190939G>A, NC_000006.11:g.83900658G>A, NG_034146.2:g.7962C>T, NM_015599.3:c.74C>T, NM_015599.2:c.74C>T, NM_001199917.2:c.158C>T, NM_001199917.1:c.158C>T, NR_159812.2:n.163C>T, NR_159812.1:n.163C>T, NM_001199919.2:c.74C>T, NM_001199919.1:c.74C>T, NM_001367287.1:c.158C>T, NM_001367286.1:c.74C>T, XR_007059273.1:n.163C>T, XR_007059272.1:n.154C>T, XM_047418877.1:c.74C>T, XR_007059271.1:n.154C>T, XM_047418876.1:c.74C>T, NP_056414.1:p.Thr25Ile, NP_001186846.1:p.Thr53Ile, NP_001186848.1:p.Thr25Ile, NP_001354216.1:p.Thr53Ile, NP_001354215.1:p.Thr25Ile, XP_047274833.1:p.Thr25Ile, XP_047274832.1:p.Thr25Ile

Select item 146540880915.

rs1465408809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:83181852 (GRCh38)
6:83891571 (GRCh37)
Canonical SPDI:: NC_000006.12:83181851:A:C,NC_000006.12:83181851:A:G
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.83181852A>C, NC_000006.12:g.83181852A>G, NC_000006.11:g.83891571A>C, NC_000006.11:g.83891571A>G, NG_034146.2:g.17049T>G, NG_034146.2:g.17049T>C, NM_015599.3:c.671T>G, NM_015599.3:c.671T>C, NM_015599.2:c.671T>G, NM_015599.2:c.671T>C, NM_001199917.2:c.755T>G, NM_001199917.2:c.755T>C, NM_001199917.1:c.755T>G, NM_001199917.1:c.755T>C, NM_001199918.2:c.428T>G, NM_001199918.2:c.428T>C, NM_001199918.1:c.428T>G, NM_001199918.1:c.428T>C, NR_159812.2:n.760T>G, NR_159812.2:n.760T>C, NR_159812.1:n.760T>G, NR_159812.1:n.760T>C, NM_001199919.2:c.671T>G, NM_001199919.2:c.671T>C, NM_001199919.1:c.671T>G, NM_001199919.1:c.671T>C, NM_001367287.1:c.755T>G, NM_001367287.1:c.755T>C, NM_001367286.1:c.671T>G, NM_001367286.1:c.671T>C, XR_001743468.3:n.554T>G, XR_001743468.3:n.554T>C, XR_001743468.2:n.555T>G, XR_001743468.2:n.555T>C, XR_001743468.1:n.555T>G, XR_001743468.1:n.555T>C, XR_942480.3:n.554T>G, XR_942480.3:n.554T>C, XR_942480.2:n.555T>G, XR_942480.2:n.555T>C, XR_942480.1:n.555T>G, XR_942480.1:n.555T>C, XM_017010935.2:c.428T>G, XM_017010935.2:c.428T>C, XM_017010935.1:c.428T>G, XM_017010935.1:c.428T>C, XM_017010937.2:c.428T>G, XM_017010937.2:c.428T>C, XM_017010937.1:c.428T>G, XM_017010937.1:c.428T>C, XR_007059273.1:n.760T>G, XR_007059273.1:n.760T>C, XR_007059272.1:n.751T>G, XR_007059272.1:n.751T>C, XR_007059270.1:n.554T>G, XR_007059270.1:n.554T>C, XM_047418877.1:c.671T>G, XM_047418877.1:c.671T>C, XR_007059271.1:n.751T>G, XR_007059271.1:n.751T>C, XM_047418876.1:c.671T>G, XM_047418876.1:c.671T>C, NP_056414.1:p.Met224Arg, NP_056414.1:p.Met224Thr, NP_001186846.1:p.Met252Arg, NP_001186846.1:p.Met252Thr, NP_001186847.1:p.Met143Arg, NP_001186847.1:p.Met143Thr, NP_001186848.1:p.Met224Arg, NP_001186848.1:p.Met224Thr, NP_001354216.1:p.Met252Arg, NP_001354216.1:p.Met252Thr, NP_001354215.1:p.Met224Arg, NP_001354215.1:p.Met224Thr, XP_016866424.1:p.Met143Arg, XP_016866424.1:p.Met143Thr, XP_016866426.1:p.Met143Arg, XP_016866426.1:p.Met143Thr, XP_047274833.1:p.Met224Arg, XP_047274833.1:p.Met224Thr, XP_047274832.1:p.Met224Arg, XP_047274832.1:p.Met224Thr

Select item 146271850816.

rs1462718508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:83178727 (GRCh38)
6:83888446 (GRCh37)
Canonical SPDI:: NC_000006.12:83178726:T:A,NC_000006.12:83178726:T:C
Gene:: PGM3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.83178727T>A, NC_000006.12:g.83178727T>C, NC_000006.11:g.83888446T>A, NC_000006.11:g.83888446T>C, NG_034146.2:g.20174A>T, NG_034146.2:g.20174A>G, NM_015599.3:c.975A>T, NM_015599.3:c.975A>G, NM_015599.2:c.975A>T, NM_015599.2:c.975A>G, NM_001199917.2:c.1059A>T, NM_001199917.2:c.1059A>G, NM_001199917.1:c.1059A>T, NM_001199917.1:c.1059A>G, NM_001199918.2:c.732A>T, NM_001199918.2:c.732A>G, NM_001199918.1:c.732A>T, NM_001199918.1:c.732A>G, NR_159812.2:n.1064A>T, NR_159812.2:n.1064A>G, NR_159812.1:n.1064A>T, NR_159812.1:n.1064A>G, NM_001199919.2:c.975A>T, NM_001199919.2:c.975A>G, NM_001199919.1:c.975A>T, NM_001199919.1:c.975A>G, NM_001367287.1:c.1059A>T, NM_001367287.1:c.1059A>G, NM_001367286.1:c.975A>T, NM_001367286.1:c.975A>G, XR_001743468.3:n.858A>T, XR_001743468.3:n.858A>G, XR_001743468.2:n.859A>T, XR_001743468.2:n.859A>G, XR_001743468.1:n.859A>T, XR_001743468.1:n.859A>G, XR_942480.3:n.858A>T, XR_942480.3:n.858A>G, XR_942480.2:n.859A>T, XR_942480.2:n.859A>G, XR_942480.1:n.859A>T, XR_942480.1:n.859A>G, XM_017010935.2:c.732A>T, XM_017010935.2:c.732A>G, XM_017010935.1:c.732A>T, XM_017010935.1:c.732A>G, XM_017010937.2:c.732A>T, XM_017010937.2:c.732A>G, XM_017010937.1:c.732A>T, XM_017010937.1:c.732A>G, XR_007059273.1:n.1064A>T, XR_007059273.1:n.1064A>G, XR_007059272.1:n.1055A>T, XR_007059272.1:n.1055A>G, XR_007059270.1:n.858A>T, XR_007059270.1:n.858A>G, XM_047418877.1:c.975A>T, XM_047418877.1:c.975A>G, XR_007059271.1:n.1055A>T, XR_007059271.1:n.1055A>G, XM_047418876.1:c.975A>T, XM_047418876.1:c.975A>G

Select item 146167632317.

rs1461676323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:83174465 (GRCh38)
6:83884184 (GRCh37)
Canonical SPDI:: NC_000006.12:83174464:T:G
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83174465T>G, NC_000006.11:g.83884184T>G, NG_034146.2:g.24436A>C, NM_015599.3:c.1151A>C, NM_015599.2:c.1151A>C, NM_001199917.2:c.1235A>C, NM_001199917.1:c.1235A>C, NM_001199918.2:c.908A>C, NM_001199918.1:c.908A>C, NR_159812.2:n.1240A>C, NR_159812.1:n.1240A>C, NM_001199919.2:c.1151A>C, NM_001199919.1:c.1151A>C, NM_001367287.1:c.1235A>C, NM_001367286.1:c.1151A>C, XR_001743468.3:n.1034A>C, XR_001743468.2:n.1035A>C, XR_001743468.1:n.1035A>C, XR_942480.3:n.1034A>C, XR_942480.2:n.1035A>C, XR_942480.1:n.1035A>C, XM_017010935.2:c.908A>C, XM_017010935.1:c.908A>C, XM_017010937.2:c.908A>C, XM_017010937.1:c.908A>C, XR_007059273.1:n.1240A>C, XR_007059272.1:n.1231A>C, XR_007059270.1:n.1034A>C, XM_047418877.1:c.1151A>C, XR_007059271.1:n.1231A>C, XM_047418876.1:c.1151A>C, NP_056414.1:p.Glu384Ala, NP_001186846.1:p.Glu412Ala, NP_001186847.1:p.Glu303Ala, NP_001186848.1:p.Glu384Ala, NP_001354216.1:p.Glu412Ala, NP_001354215.1:p.Glu384Ala, XP_016866424.1:p.Glu303Ala, XP_016866426.1:p.Glu303Ala, XP_047274833.1:p.Glu384Ala, XP_047274832.1:p.Glu384Ala

Select item 145808508518.

rs1458085085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83170320 (GRCh38)
6:83880039 (GRCh37)
Canonical SPDI:: NC_000006.12:83170319:T:C
Gene:: PGM3 (Varview), DOP1A (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83170320T>C, NC_000006.11:g.83880039T>C, NG_034146.2:g.28581A>G, NM_015599.3:c.1524A>G, NM_015599.2:c.1524A>G, NM_001199917.2:c.1608A>G, NM_001199917.1:c.1608A>G, NM_001199918.2:c.1281A>G, NM_001199918.1:c.1281A>G, NR_159812.2:n.1613A>G, NR_159812.1:n.1613A>G, NM_001199919.2:c.1524A>G, NM_001199919.1:c.1524A>G, NM_001367287.1:c.1608A>G, NM_001367286.1:c.1401A>G, XM_011535619.3:c.*678T>C, XM_011535619.2:c.*678T>C, XM_017010560.3:c.*678T>C, XM_017010560.2:c.*678T>C, XM_017010560.1:c.*678T>C, XM_017010562.3:c.*678T>C, XM_017010562.2:c.*678T>C, XM_017010562.1:c.*678T>C, XR_001743468.3:n.1407A>G, XR_001743468.2:n.1408A>G, XR_001743468.1:n.1408A>G, XR_942480.3:n.1407A>G, XR_942480.2:n.1408A>G, XR_942480.1:n.1408A>G, XM_017010559.2:c.*678T>C, XM_017010559.1:c.*678T>C, XM_017010561.2:c.*678T>C, XM_017010561.1:c.*678T>C, XM_017010564.2:c.*678T>C, XM_017010564.1:c.*678T>C, XM_017010570.2:c.*678T>C, XM_017010570.1:c.*678T>C, XM_017010571.2:c.*678T>C, XM_017010571.1:c.*678T>C, XM_017010572.2:c.*678T>C, XM_017010572.1:c.*678T>C, XM_017010935.2:c.1281A>G, XM_017010935.1:c.1281A>G, XM_017010937.2:c.1158A>G, XM_017010937.1:c.1158A>G, XR_007059273.1:n.1613A>G, XR_007059272.1:n.1604A>G, XM_047418442.1:c.*1399T>C, XM_047418447.1:c.*1399T>C, XM_047418446.1:c.*1399T>C, XM_047418450.1:c.*1399T>C, XM_047418451.1:c.*1399T>C, XM_047418449.1:c.*1399T>C, XM_047418428.1:c.*678T>C, XM_047418431.1:c.*678T>C, XM_047418455.1:c.*1399T>C, NR_169791.1:n.8304T>C, XM_047418434.1:c.*678T>C, XM_047418436.1:c.*678T>C, XM_047418430.1:c.*678T>C, XM_047418440.1:c.*678T>C, XM_047418441.1:c.*678T>C, XM_047418432.1:c.*678T>C, XM_047418443.1:c.*678T>C, XM_047418433.1:c.*678T>C, XM_047418435.1:c.*678T>C, XM_047418445.1:c.*678T>C, XM_047418438.1:c.*678T>C, XM_047418448.1:c.*678T>C, XM_047418439.1:c.*678T>C, XM_047418444.1:c.*678T>C, XM_047418452.1:c.*678T>C, XM_047418453.1:c.*678T>C, XR_007059270.1:n.1407A>G, XM_047418877.1:c.1401A>G, XR_007059271.1:n.1604A>G, XM_047418876.1:c.1524A>G

Select item 145597823019.

rs1455978230 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:83178687 (GRCh38)
6:83888406 (GRCh37)
Canonical SPDI:: NC_000006.12:83178686:C:
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83178687del, NC_000006.11:g.83888406del, NG_034146.2:g.20214del, NM_015599.3:c.1015del, NM_015599.2:c.1015del, NM_001199917.2:c.1099del, NM_001199917.1:c.1099del, NM_001199918.2:c.772del, NM_001199918.1:c.772del, NR_159812.2:n.1104del, NR_159812.1:n.1104del, NM_001199919.2:c.1015del, NM_001199919.1:c.1015del, NM_001367287.1:c.1099del, NM_001367286.1:c.1015del, XR_001743468.3:n.898del, XR_001743468.2:n.899del, XR_001743468.1:n.899del, XR_942480.3:n.898del, XR_942480.2:n.899del, XR_942480.1:n.899del, XM_017010935.2:c.772del, XM_017010935.1:c.772del, XM_017010937.2:c.772del, XM_017010937.1:c.772del, XR_007059273.1:n.1104del, XR_007059272.1:n.1095del, XR_007059270.1:n.898del, XM_047418877.1:c.1015del, XR_007059271.1:n.1095del, XM_047418876.1:c.1015del, NP_056414.1:p.Glu339fs, NP_001186846.1:p.Glu367fs, NP_001186847.1:p.Glu258fs, NP_001186848.1:p.Glu339fs, NP_001354216.1:p.Glu367fs, NP_001354215.1:p.Glu339fs, XP_016866424.1:p.Glu258fs, XP_016866426.1:p.Glu258fs, XP_047274833.1:p.Glu339fs, XP_047274832.1:p.Glu339fs

Select item 145591928320.

rs1455919283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83174409 (GRCh38)
6:83884128 (GRCh37)
Canonical SPDI:: NC_000006.12:83174408:T:C
Gene:: PGM3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83174409T>C, NC_000006.11:g.83884128T>C, NG_034146.2:g.24492A>G, NM_015599.3:c.1207A>G, NM_015599.2:c.1207A>G, NM_001199917.2:c.1291A>G, NM_001199917.1:c.1291A>G, NM_001199918.2:c.964A>G, NM_001199918.1:c.964A>G, NR_159812.2:n.1296A>G, NR_159812.1:n.1296A>G, NM_001199919.2:c.1207A>G, NM_001199919.1:c.1207A>G, NM_001367287.1:c.1291A>G, NM_001367286.1:c.1207A>G, XR_001743468.3:n.1090A>G, XR_001743468.2:n.1091A>G, XR_001743468.1:n.1091A>G, XR_942480.3:n.1090A>G, XR_942480.2:n.1091A>G, XR_942480.1:n.1091A>G, XM_017010935.2:c.964A>G, XM_017010935.1:c.964A>G, XM_017010937.2:c.964A>G, XM_017010937.1:c.964A>G, XR_007059273.1:n.1296A>G, XR_007059272.1:n.1287A>G, XR_007059270.1:n.1090A>G, XM_047418877.1:c.1207A>G, XR_007059271.1:n.1287A>G, XM_047418876.1:c.1207A>G, NP_056414.1:p.Lys403Glu, NP_001186846.1:p.Lys431Glu, NP_001186847.1:p.Lys322Glu, NP_001186848.1:p.Lys403Glu, NP_001354216.1:p.Lys431Glu, NP_001354215.1:p.Lys403Glu, XP_016866424.1:p.Lys322Glu, XP_016866426.1:p.Lys322Glu, XP_047274833.1:p.Lys403Glu, XP_047274832.1:p.Lys403Glu

<< First< Prev

Page of 25

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 7661568) (482)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...