SNP Links for Protein (Select 189491744) - SNP

Select item 14906356151.

rs1490635615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:562639 (GRCh38)
17:465879 (GRCh37)
Canonical SPDI:: NC_000017.11:562638:G:A
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.562639G>A, NC_000017.10:g.465879G>A, NG_034190.1:g.157218C>T, NM_018289.4:c.1333C>T, NM_018289.3:c.1333C>T, NM_001128159.3:c.1420C>T, NM_001128159.2:c.1420C>T, NM_001366254.2:c.826C>T, NM_001366254.1:c.826C>T, NM_001366253.2:c.1420C>T, NM_001366253.1:c.1420C>T, NW_017363817.1:g.122116G>A, XM_047436344.1:c.1420C>T, XM_047436345.1:c.1333C>T, XM_047436348.1:c.847C>T, XM_047436349.1:c.826C>T, XM_047436347.1:c.847C>T, XM_047436351.1:c.*71C>T, XM_047436346.1:c.1294C>T, NP_060759.2:p.Leu445Phe, NP_001121631.1:p.Leu474Phe, NP_001353183.1:p.Leu276Phe, NP_001353182.1:p.Leu474Phe, XP_047292300.1:p.Leu474Phe, XP_047292301.1:p.Leu445Phe, XP_047292304.1:p.Leu283Phe, XP_047292305.1:p.Leu276Phe, XP_047292303.1:p.Leu283Phe, XP_047292302.1:p.Leu432Phe

Select item 14905438042.

rs1490543804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:551875 (GRCh38)
17:455115 (GRCh37)
Canonical SPDI:: NC_000017.11:551874:G:A
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.551875G>A, NC_000017.10:g.455115G>A, NG_034190.1:g.167982C>T, NM_018289.4:c.1776C>T, NM_018289.3:c.1776C>T, NM_001128159.3:c.1863C>T, NM_001128159.2:c.1863C>T, NM_001366254.2:c.1269C>T, NM_001366254.1:c.1269C>T, NM_001366253.2:c.1863C>T, NM_001366253.1:c.1863C>T, NW_017363817.1:g.111352G>A, XM_047436345.1:c.1776C>T, XM_047436348.1:c.1290C>T, XM_047436349.1:c.1269C>T, XM_047436344.1:c.1863C>T, XM_047436346.1:c.1737C>T, XM_047436347.1:c.1290C>T

Select item 14885994543.

rs1488599454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:519248 (GRCh38)
17:422488 (GRCh37)
Canonical SPDI:: NC_000017.11:519247:C:T
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.519248C>T, NC_000017.10:g.422488C>T, NG_034190.1:g.200609G>A, NM_001128159.3:c.2379G>A, NM_001128159.2:c.2379G>A, NW_017363817.1:g.78725C>T, XM_047436344.1:c.2379G>A, XM_047436345.1:c.2292G>A, XM_047436346.1:c.2253G>A, XM_047436348.1:c.1806G>A, XM_047436349.1:c.1785G>A, XM_047436347.1:c.1806G>A

Select item 14877049464.

rs1487704946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:661895 (GRCh38)
17:565135 (GRCh37)
Canonical SPDI:: NC_000017.11:661894:C:T
Gene:: VPS53 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.661895C>T, NC_000017.10:g.565135C>T, NG_034190.1:g.57962G>A, NM_001128159.3:c.286G>A, NM_001128159.2:c.286G>A, NM_001366254.2:c.-407G>A, NM_001366254.1:c.-407G>A, NM_001366253.2:c.286G>A, NM_001366253.1:c.286G>A, NW_017363817.1:g.221372C>T, XM_047436344.1:c.286G>A, XM_047436346.1:c.160G>A, XM_047436350.1:c.286G>A, XM_047436351.1:c.286G>A, NP_001121631.1:p.Ala96Thr, NP_001353182.1:p.Ala96Thr, XP_047292300.1:p.Ala96Thr, XP_047292302.1:p.Ala54Thr, XP_047292306.1:p.Ala96Thr, XP_047292307.1:p.Ala96Thr

Select item 14864959165.

rs1486495916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:519255 (GRCh38)
17:422495 (GRCh37)
Canonical SPDI:: NC_000017.11:519254:C:T
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.519255C>T, NC_000017.10:g.422495C>T, NG_034190.1:g.200602G>A, NM_001128159.3:c.2372G>A, NM_001128159.2:c.2372G>A, NW_017363817.1:g.78732C>T, XM_047436344.1:c.2372G>A, XM_047436345.1:c.2285G>A, XM_047436346.1:c.2246G>A, XM_047436348.1:c.1799G>A, XM_047436349.1:c.1778G>A, XM_047436347.1:c.1799G>A, NP_001121631.1:p.Arg791His, XP_047292300.1:p.Arg791His, XP_047292301.1:p.Arg762His, XP_047292302.1:p.Arg749His, XP_047292304.1:p.Arg600His, XP_047292305.1:p.Arg593His, XP_047292303.1:p.Arg600His

Select item 14856124146.

rs1485612414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:627252 (GRCh38)
17:530492 (GRCh37)
Canonical SPDI:: NC_000017.11:627251:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.627252T>C, NC_000017.10:g.530492T>C, NG_034190.1:g.92605A>G, NM_018289.4:c.809A>G, NM_018289.3:c.809A>G, NM_001128159.3:c.896A>G, NM_001128159.2:c.896A>G, NM_001366254.2:c.302A>G, NM_001366254.1:c.302A>G, NM_001366253.2:c.896A>G, NM_001366253.1:c.896A>G, NW_017363817.1:g.186729T>C, XM_047436344.1:c.896A>G, XM_047436345.1:c.809A>G, XM_047436346.1:c.770A>G, XM_047436348.1:c.323A>G, XM_047436349.1:c.302A>G, XM_047436347.1:c.323A>G, XM_047436350.1:c.896A>G, XM_047436351.1:c.896A>G, NP_060759.2:p.Glu270Gly, NP_001121631.1:p.Glu299Gly, NP_001353183.1:p.Glu101Gly, NP_001353182.1:p.Glu299Gly, XP_047292300.1:p.Glu299Gly, XP_047292301.1:p.Glu270Gly, XP_047292302.1:p.Glu257Gly, XP_047292304.1:p.Glu108Gly, XP_047292305.1:p.Glu101Gly, XP_047292303.1:p.Glu108Gly, XP_047292306.1:p.Glu299Gly, XP_047292307.1:p.Glu299Gly

Select item 14846698067.

rs1484669806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:623584 (GRCh38)
17:526824 (GRCh37)
Canonical SPDI:: NC_000017.11:623583:C:G
Gene:: VPS53 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.623584C>G, NC_000017.10:g.526824C>G, NG_034190.1:g.96273G>C, NM_018289.4:c.978G>C, NM_018289.3:c.978G>C, NM_001128159.3:c.1065G>C, NM_001128159.2:c.1065G>C, NM_001366254.2:c.471G>C, NM_001366254.1:c.471G>C, NM_001366253.2:c.1065G>C, NM_001366253.1:c.1065G>C, NW_017363817.1:g.183061C>G, XM_047436344.1:c.1065G>C, XM_047436345.1:c.978G>C, XM_047436346.1:c.939G>C, XM_047436348.1:c.492G>C, XM_047436349.1:c.471G>C, XM_047436347.1:c.492G>C, XM_047436350.1:c.1065G>C, XM_047436351.1:c.1065G>C, NP_060759.2:p.Glu326Asp, NP_001121631.1:p.Glu355Asp, NP_001353183.1:p.Glu157Asp, NP_001353182.1:p.Glu355Asp, XP_047292300.1:p.Glu355Asp, XP_047292301.1:p.Glu326Asp, XP_047292302.1:p.Glu313Asp, XP_047292304.1:p.Glu164Asp, XP_047292305.1:p.Glu157Asp, XP_047292303.1:p.Glu164Asp, XP_047292306.1:p.Glu355Asp, XP_047292307.1:p.Glu355Asp

Select item 14820368638.

rs1482036863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:710573 (GRCh38)
17:613813 (GRCh37)
Canonical SPDI:: NC_000017.11:710572:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000016/4 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.710573T>C, NC_000017.10:g.613813T>C, NG_034190.1:g.9284A>G, NM_018289.4:c.128A>G, NM_018289.3:c.128A>G, NM_001128159.3:c.128A>G, NM_001128159.2:c.128A>G, NM_001366254.2:c.-565A>G, NM_001366254.1:c.-565A>G, NM_001366253.2:c.128A>G, NM_001366253.1:c.128A>G, NW_017363817.1:g.270050T>C, XM_047436344.1:c.128A>G, XM_047436345.1:c.128A>G, XM_047436350.1:c.128A>G, XM_047436351.1:c.128A>G, NP_060759.2:p.Asn43Ser, NP_001121631.1:p.Asn43Ser, NP_001353182.1:p.Asn43Ser, XP_047292300.1:p.Asn43Ser, XP_047292301.1:p.Asn43Ser, XP_047292306.1:p.Asn43Ser, XP_047292307.1:p.Asn43Ser

Select item 14816526559.

rs1481652655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:537045 (GRCh38)
17:440285 (GRCh37)
Canonical SPDI:: NC_000017.11:537044:G:A
Gene:: VPS53 (Varview), LOC124903890 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.537045G>A, NC_000017.10:g.440285G>A, NG_034190.1:g.182812C>T, NM_018289.4:c.1911C>T, NM_018289.3:c.1911C>T, NM_001128159.3:c.1998C>T, NM_001128159.2:c.1998C>T, NM_001366254.2:c.1404C>T, NM_001366254.1:c.1404C>T, NM_001366253.2:c.1998C>T, NM_001366253.1:c.1998C>T, NW_017363817.1:g.96522G>A, XM_047436348.1:c.1425C>T, XM_047436346.1:c.1872C>T, XM_047436349.1:c.1404C>T, XM_047436347.1:c.1425C>T, XM_047436345.1:c.1911C>T, XM_047436344.1:c.1998C>T

Select item 148139547910.

rs1481395479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:627176 (GRCh38)
17:530416 (GRCh37)
Canonical SPDI:: NC_000017.11:627175:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.627176T>C, NC_000017.10:g.530416T>C, NG_034190.1:g.92681A>G, NM_018289.4:c.885A>G, NM_018289.3:c.885A>G, NM_001128159.3:c.972A>G, NM_001128159.2:c.972A>G, NM_001366254.2:c.378A>G, NM_001366254.1:c.378A>G, NM_001366253.2:c.972A>G, NM_001366253.1:c.972A>G, NW_017363817.1:g.186653T>C, XM_047436344.1:c.972A>G, XM_047436348.1:c.399A>G, XM_047436349.1:c.378A>G, XM_047436347.1:c.399A>G, XM_047436350.1:c.972A>G, XM_047436351.1:c.972A>G, XM_047436346.1:c.846A>G, XM_047436345.1:c.885A>G

Select item 148125989811.

rs1481259898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:628121 (GRCh38)
17:531361 (GRCh37)
Canonical SPDI:: NC_000017.11:628120:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.628121T>C, NC_000017.10:g.531361T>C, NG_034190.1:g.91736A>G, NM_018289.4:c.711A>G, NM_018289.3:c.711A>G, NM_001128159.3:c.798A>G, NM_001128159.2:c.798A>G, NM_001366254.2:c.204A>G, NM_001366254.1:c.204A>G, NM_001366253.2:c.798A>G, NM_001366253.1:c.798A>G, NW_017363817.1:g.187598T>C, XM_047436344.1:c.798A>G, XM_047436348.1:c.225A>G, XM_047436349.1:c.204A>G, XM_047436347.1:c.225A>G, XM_047436350.1:c.798A>G, XM_047436351.1:c.798A>G, XM_047436346.1:c.672A>G, XM_047436345.1:c.711A>G

Select item 148122291412.

rs1481222914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:562584 (GRCh38)
17:465824 (GRCh37)
Canonical SPDI:: NC_000017.11:562583:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.562584T>C, NC_000017.10:g.465824T>C, NG_034190.1:g.157273A>G, NM_018289.4:c.1388A>G, NM_018289.3:c.1388A>G, NM_001128159.3:c.1475A>G, NM_001128159.2:c.1475A>G, NM_001366254.2:c.881A>G, NM_001366254.1:c.881A>G, NM_001366253.2:c.1475A>G, NM_001366253.1:c.1475A>G, NW_017363817.1:g.122061T>C, XM_047436345.1:c.1388A>G, XM_047436348.1:c.902A>G, XM_047436349.1:c.881A>G, XM_047436344.1:c.1475A>G, XM_047436346.1:c.1349A>G, XM_047436347.1:c.902A>G, NP_060759.2:p.Glu463Gly, NP_001121631.1:p.Glu492Gly, NP_001353183.1:p.Glu294Gly, NP_001353182.1:p.Glu492Gly, XP_047292301.1:p.Glu463Gly, XP_047292304.1:p.Glu301Gly, XP_047292305.1:p.Glu294Gly, XP_047292300.1:p.Glu492Gly, XP_047292302.1:p.Glu450Gly, XP_047292303.1:p.Glu301Gly

Select item 147825563013.

rs1478255630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:560517 (GRCh38)
17:463757 (GRCh37)
Canonical SPDI:: NC_000017.11:560516:C:T
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.560517C>T, NC_000017.10:g.463757C>T, NG_034190.1:g.159340G>A, NM_018289.4:c.1526G>A, NM_018289.3:c.1526G>A, NM_001128159.3:c.1613G>A, NM_001128159.2:c.1613G>A, NM_001366254.2:c.1019G>A, NM_001366254.1:c.1019G>A, NM_001366253.2:c.1613G>A, NM_001366253.1:c.1613G>A, NW_017363817.1:g.119994C>T, XM_047436345.1:c.1526G>A, XM_047436348.1:c.1040G>A, XM_047436349.1:c.1019G>A, XM_047436344.1:c.1613G>A, XM_047436346.1:c.1487G>A, XM_047436347.1:c.1040G>A, NP_060759.2:p.Gly509Asp, NP_001121631.1:p.Gly538Asp, NP_001353183.1:p.Gly340Asp, NP_001353182.1:p.Gly538Asp, XP_047292301.1:p.Gly509Asp, XP_047292304.1:p.Gly347Asp, XP_047292305.1:p.Gly340Asp, XP_047292300.1:p.Gly538Asp, XP_047292302.1:p.Gly496Asp, XP_047292303.1:p.Gly347Asp

Select item 147268585814.

rs1472685858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:628227 (GRCh38)
17:531467 (GRCh37)
Canonical SPDI:: NC_000017.11:628226:G:A
Gene:: VPS53 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.628227G>A, NC_000017.10:g.531467G>A, NG_034190.1:g.91630C>T, NM_018289.4:c.605C>T, NM_018289.3:c.605C>T, NM_001128159.3:c.692C>T, NM_001128159.2:c.692C>T, NM_001366254.2:c.98C>T, NM_001366254.1:c.98C>T, NM_001366253.2:c.692C>T, NM_001366253.1:c.692C>T, NW_017363817.1:g.187704G>A, XM_047436344.1:c.692C>T, XM_047436348.1:c.119C>T, XM_047436349.1:c.98C>T, XM_047436347.1:c.119C>T, XM_047436350.1:c.692C>T, XM_047436351.1:c.692C>T, XM_047436346.1:c.566C>T, XM_047436345.1:c.605C>T, NP_060759.2:p.Pro202Leu, NP_001121631.1:p.Pro231Leu, NP_001353183.1:p.Pro33Leu, NP_001353182.1:p.Pro231Leu, XP_047292300.1:p.Pro231Leu, XP_047292304.1:p.Pro40Leu, XP_047292305.1:p.Pro33Leu, XP_047292303.1:p.Pro40Leu, XP_047292306.1:p.Pro231Leu, XP_047292307.1:p.Pro231Leu, XP_047292302.1:p.Pro189Leu, XP_047292301.1:p.Pro202Leu

Select item 147088175515.

rs1470881755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:628156 (GRCh38)
17:531396 (GRCh37)
Canonical SPDI:: NC_000017.11:628155:C:A,NC_000017.11:628155:C:T
Gene:: VPS53 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.628156C>A, NC_000017.11:g.628156C>T, NC_000017.10:g.531396C>A, NC_000017.10:g.531396C>T, NG_034190.1:g.91701G>T, NG_034190.1:g.91701G>A, NM_018289.4:c.676G>T, NM_018289.4:c.676G>A, NM_018289.3:c.676G>T, NM_018289.3:c.676G>A, NM_001128159.3:c.763G>T, NM_001128159.3:c.763G>A, NM_001128159.2:c.763G>T, NM_001128159.2:c.763G>A, NM_001366254.2:c.169G>T, NM_001366254.2:c.169G>A, NM_001366254.1:c.169G>T, NM_001366254.1:c.169G>A, NM_001366253.2:c.763G>T, NM_001366253.2:c.763G>A, NM_001366253.1:c.763G>T, NM_001366253.1:c.763G>A, NW_017363817.1:g.187633C>A, NW_017363817.1:g.187633C>T, XM_047436344.1:c.763G>T, XM_047436344.1:c.763G>A, XM_047436348.1:c.190G>T, XM_047436348.1:c.190G>A, XM_047436349.1:c.169G>T, XM_047436349.1:c.169G>A, XM_047436347.1:c.190G>T, XM_047436347.1:c.190G>A, XM_047436350.1:c.763G>T, XM_047436350.1:c.763G>A, XM_047436351.1:c.763G>T, XM_047436351.1:c.763G>A, XM_047436346.1:c.637G>T, XM_047436346.1:c.637G>A, XM_047436345.1:c.676G>T, XM_047436345.1:c.676G>A, NP_060759.2:p.Glu226Ter, NP_060759.2:p.Glu226Lys, NP_001121631.1:p.Glu255Ter, NP_001121631.1:p.Glu255Lys, NP_001353183.1:p.Glu57Ter, NP_001353183.1:p.Glu57Lys, NP_001353182.1:p.Glu255Ter, NP_001353182.1:p.Glu255Lys, XP_047292300.1:p.Glu255Ter, XP_047292300.1:p.Glu255Lys, XP_047292304.1:p.Glu64Ter, XP_047292304.1:p.Glu64Lys, XP_047292305.1:p.Glu57Ter, XP_047292305.1:p.Glu57Lys, XP_047292303.1:p.Glu64Ter, XP_047292303.1:p.Glu64Lys, XP_047292306.1:p.Glu255Ter, XP_047292306.1:p.Glu255Lys, XP_047292307.1:p.Glu255Ter, XP_047292307.1:p.Glu255Lys, XP_047292302.1:p.Glu213Ter, XP_047292302.1:p.Glu213Lys, XP_047292301.1:p.Glu226Ter, XP_047292301.1:p.Glu226Lys

Select item 146948685116.

rs1469486851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:519839 (GRCh38)
17:423079 (GRCh37)
Canonical SPDI:: NC_000017.11:519838:A:G
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.000177/3 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.519839A>G, NC_000017.10:g.423079A>G, NG_034190.1:g.200018T>C, NM_001128159.3:c.2315T>C, NM_001128159.2:c.2315T>C, NW_017363817.1:g.79316A>G, XM_047436344.1:c.2315T>C, XM_047436345.1:c.2228T>C, XM_047436346.1:c.2189T>C, XM_047436348.1:c.1742T>C, XM_047436349.1:c.1721T>C, XM_047436347.1:c.1742T>C, NP_001121631.1:p.Ile772Thr, XP_047292300.1:p.Ile772Thr, XP_047292301.1:p.Ile743Thr, XP_047292302.1:p.Ile730Thr, XP_047292304.1:p.Ile581Thr, XP_047292305.1:p.Ile574Thr, XP_047292303.1:p.Ile581Thr

Select item 146931539117.

rs1469315391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:628128 (GRCh38)
17:531368 (GRCh37)
Canonical SPDI:: NC_000017.11:628127:T:A,NC_000017.11:628127:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.628128T>A, NC_000017.11:g.628128T>C, NC_000017.10:g.531368T>A, NC_000017.10:g.531368T>C, NG_034190.1:g.91729A>T, NG_034190.1:g.91729A>G, NM_018289.4:c.704A>T, NM_018289.4:c.704A>G, NM_018289.3:c.704A>T, NM_018289.3:c.704A>G, NM_001128159.3:c.791A>T, NM_001128159.3:c.791A>G, NM_001128159.2:c.791A>T, NM_001128159.2:c.791A>G, NM_001366254.2:c.197A>T, NM_001366254.2:c.197A>G, NM_001366254.1:c.197A>T, NM_001366254.1:c.197A>G, NM_001366253.2:c.791A>T, NM_001366253.2:c.791A>G, NM_001366253.1:c.791A>T, NM_001366253.1:c.791A>G, NW_017363817.1:g.187605T>A, NW_017363817.1:g.187605T>C, XM_047436344.1:c.791A>T, XM_047436344.1:c.791A>G, XM_047436348.1:c.218A>T, XM_047436348.1:c.218A>G, XM_047436349.1:c.197A>T, XM_047436349.1:c.197A>G, XM_047436347.1:c.218A>T, XM_047436347.1:c.218A>G, XM_047436350.1:c.791A>T, XM_047436350.1:c.791A>G, XM_047436351.1:c.791A>T, XM_047436351.1:c.791A>G, XM_047436346.1:c.665A>T, XM_047436346.1:c.665A>G, XM_047436345.1:c.704A>T, XM_047436345.1:c.704A>G, NP_060759.2:p.His235Leu, NP_060759.2:p.His235Arg, NP_001121631.1:p.His264Leu, NP_001121631.1:p.His264Arg, NP_001353183.1:p.His66Leu, NP_001353183.1:p.His66Arg, NP_001353182.1:p.His264Leu, NP_001353182.1:p.His264Arg, XP_047292300.1:p.His264Leu, XP_047292300.1:p.His264Arg, XP_047292304.1:p.His73Leu, XP_047292304.1:p.His73Arg, XP_047292305.1:p.His66Leu, XP_047292305.1:p.His66Arg, XP_047292303.1:p.His73Leu, XP_047292303.1:p.His73Arg, XP_047292306.1:p.His264Leu, XP_047292306.1:p.His264Arg, XP_047292307.1:p.His264Leu, XP_047292307.1:p.His264Arg, XP_047292302.1:p.His222Leu, XP_047292302.1:p.His222Arg, XP_047292301.1:p.His235Leu, XP_047292301.1:p.His235Arg

Select item 146885770118.

rs1468857701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:601842 (GRCh38)
17:505082 (GRCh37)
Canonical SPDI:: NC_000017.11:601841:T:C
Gene:: VPS53 (Varview)
Functional Consequence:: missense_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_000017.11:g.601842T>C, NC_000017.10:g.505082T>C, NG_034190.1:g.118015A>G, NM_018289.4:c.1084A>G, NM_018289.3:c.1084A>G, NM_001128159.3:c.1171A>G, NM_001128159.2:c.1171A>G, NM_001366254.2:c.577A>G, NM_001366254.1:c.577A>G, NM_001366253.2:c.1171A>G, NM_001366253.1:c.1171A>G, NW_017363817.1:g.161319T>C, XM_047436344.1:c.1171A>G, XM_047436348.1:c.598A>G, XM_047436349.1:c.577A>G, XM_047436347.1:c.598A>G, XM_047436350.1:c.1171A>G, XM_047436351.1:c.1171A>G, XM_047436346.1:c.1045A>G, XM_047436345.1:c.1084A>G, NP_060759.2:p.Thr362Ala, NP_001121631.1:p.Thr391Ala, NP_001353183.1:p.Thr193Ala, NP_001353182.1:p.Thr391Ala, XP_047292300.1:p.Thr391Ala, XP_047292304.1:p.Thr200Ala, XP_047292305.1:p.Thr193Ala, XP_047292303.1:p.Thr200Ala, XP_047292306.1:p.Thr391Ala, XP_047292307.1:p.Thr391Ala, XP_047292302.1:p.Thr349Ala, XP_047292301.1:p.Thr362Ala

Select item 146878101119.

rs1468781011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:519259 (GRCh38)
17:422499 (GRCh37)
Canonical SPDI:: NC_000017.11:519258:G:T
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.519259G>T, NC_000017.10:g.422499G>T, NG_034190.1:g.200598C>A, NM_001128159.3:c.2368C>A, NM_001128159.2:c.2368C>A, NW_017363817.1:g.78736G>T, XM_047436344.1:c.2368C>A, XM_047436345.1:c.2281C>A, XM_047436346.1:c.2242C>A, XM_047436348.1:c.1795C>A, XM_047436349.1:c.1774C>A, XM_047436347.1:c.1795C>A, NP_001121631.1:p.Leu790Met, XP_047292300.1:p.Leu790Met, XP_047292301.1:p.Leu761Met, XP_047292302.1:p.Leu748Met, XP_047292304.1:p.Leu599Met, XP_047292305.1:p.Leu592Met, XP_047292303.1:p.Leu599Met

Select item 146819567920.

rs1468195679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:519871 (GRCh38)
17:423111 (GRCh37)
Canonical SPDI:: NC_000017.11:519870:G:A
Gene:: VPS53 (Varview)
Functional Consequence:: genic_downstream_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=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.519871G>A, NC_000017.10:g.423111G>A, NG_034190.1:g.199986C>T, NM_001128159.3:c.2283C>T, NM_001128159.2:c.2283C>T, NW_017363817.1:g.79348G>A, XM_047436344.1:c.2283C>T, XM_047436345.1:c.2196C>T, XM_047436346.1:c.2157C>T, XM_047436348.1:c.1710C>T, XM_047436349.1:c.1689C>T, XM_047436347.1:c.1710C>T

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 758

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 758

Page of 38

Page of 38

Display Settings:

Supplemental Content

Find related data

Recent activity