SNP Links for Protein (Select 1034638416) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:5708298 (GRCh38)
4:5710025 (GRCh37)
Canonical SPDI:: NC_000004.12:5708297:C:T
Gene:: EVC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.5708298C>T, NC_000004.11:g.5710025C>T, NG_015821.1:g.6251G>A, NM_147127.5:c.216G>A, NM_147127.4:c.216G>A, NG_008843.1:g.2102C>T, XM_017007738.2:c.216G>A, XM_017007738.1:c.216G>A, XM_047449612.1:c.216G>A

Select item 147861373817.

rs1478613738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:5640625 (GRCh38)
4:5642352 (GRCh37)
Canonical SPDI:: NC_000004.12:5640624:T:A
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.5640625T>A, NC_000004.11:g.5642352T>A, NG_015821.1:g.73924A>T, NM_147127.5:c.1359A>T, NM_147127.4:c.1359A>T, NM_001166136.2:c.1119A>T, NM_001166136.1:c.1119A>T, NG_083282.1:g.1010T>A, XM_017007736.2:c.1119A>T, XM_017007736.1:c.1119A>T, XM_017007738.2:c.1359A>T, XM_017007738.1:c.1359A>T, XM_047449611.1:c.1119A>T, XM_047449610.1:c.1119A>T, XM_047449612.1:c.1359A>T

Select item 147710257318.

rs1477102573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:5708381 (GRCh38)
4:5710108 (GRCh37)
Canonical SPDI:: NC_000004.12:5708380:G:A
Gene:: EVC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,stop_gained
Clinical significance:: pathogenic,likely-pathogenic
HGVS:: NC_000004.12:g.5708381G>A, NC_000004.11:g.5710108G>A, NG_015821.1:g.6168C>T, NM_147127.5:c.133C>T, NM_147127.4:c.133C>T, NG_008843.1:g.2185G>A, XM_017007738.2:c.133C>T, XM_017007738.1:c.133C>T, XM_047449612.1:c.133C>T, NP_667338.3:p.Gln45Ter, XP_016863227.1:p.Gln45Ter, XP_047305568.1:p.Gln45Ter

Select item 147651850819.

rs1476518508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:5576454 (GRCh38)
4:5578181 (GRCh37)
Canonical SPDI:: NC_000004.12:5576453:C:T
Gene:: EVC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5576454C>T, NC_000004.11:g.5578181C>T, NG_015821.1:g.138095G>A, NM_147127.5:c.3058G>A, NM_147127.4:c.3058G>A, NM_001166136.2:c.2818G>A, NM_001166136.1:c.2818G>A, XM_017007736.2:c.2818G>A, XM_017007736.1:c.2818G>A, XM_017007738.2:c.3058G>A, XM_017007738.1:c.3058G>A, XM_047449611.1:c.2818G>A, XM_047449610.1:c.2818G>A, NP_667338.3:p.Glu1020Lys, NP_001159608.1:p.Glu940Lys, XP_016863225.1:p.Glu940Lys, XP_016863227.1:p.Glu1020Lys, XP_047305567.1:p.Glu940Lys, XP_047305566.1:p.Glu940Lys

Select item 147595131020.

rs1475951310 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:5665615 (GRCh38)
4:5667342 (GRCh37)
Canonical SPDI:: NC_000004.12:5665614:AA:
Gene:: EVC2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5665615_5665616del, NC_000004.11:g.5667342_5667343del, NG_015821.1:g.48933_48934del, NM_147127.5:c.904_905del, NM_147127.4:c.904_905del, NM_001166136.2:c.664_665del, NM_001166136.1:c.664_665del, NG_083283.1:g.1374_1375del, XM_017007736.2:c.664_665del, XM_017007736.1:c.664_665del, XM_017007738.2:c.904_905del, XM_017007738.1:c.904_905del, XM_047449611.1:c.664_665del, XM_047449610.1:c.664_665del, XM_047449612.1:c.904_905del, NP_667338.3:p.Phe302fs, NP_001159608.1:p.Phe222fs, XP_016863225.1:p.Phe222fs, XP_016863227.1:p.Phe302fs, XP_047305567.1:p.Phe222fs, XP_047305566.1:p.Phe222fs, XP_047305568.1:p.Phe302fs

dbSNP