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rs76157638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a mutation for Stargardt disease
(G;G) 6 Stargardt disease
ReferenceGRCh38 38.1/141
Chromosome1
Position94051698
GeneABCA4
is asnp
is mentioned by
dbSNPrs76157638
dbSNP (old)rs76157638
ClinGenrs76157638
ebirs76157638
HLIrs76157638
Exacrs76157638
Varsomers76157638
Maprs76157638
PheGenIrs76157638
Biobankrs76157638
1000 genomesrs76157638
hgdprs76157638
ensemblrs76157638
gopubmedrs76157638
geneviewrs76157638
scholarrs76157638
googlers76157638
pharmgkbrs76157638
gwascentralrs76157638
openSNPrs76157638
23andMers76157638
23andMe allrs76157638
SNP Nexus

SNPshotrs76157638
SNPdbers76157638
MSV3drs76157638
GWAS Ctlgrs76157638
Merged fromRs121909203
GMAF0.0004591
Max Magnitude6

rs76157638, also known as c.2588G>C, p.Gly863Ala and G863A, represents a rare mutation in the ABCA4 gene on chromosome 1.

Inherited recessively, the rs76157638(G) allele - as designated in dbSNP orientation - is considered pathogenic for Stargardt disease in ClinVar (and also BabySeq).

ClinVar
Risk Rs76157638(G;G)
Alt Rs76157638(G;G)
Reference Rs76157638(C;C)
Significance Other
Disease Stargardt disease 1 Cone-rod dystrophy 3 not provided Abnormality of the macula Peripheral neuropathy
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 Cone-rod dystrophy 3 not provided Abnormality of the macula Peripheral neuropathy
Reversed 0
HGVS NC_000001.10:g.94517254C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008328.5, RCV000008329.3, RCV000085494.2, RCV000197749.1, RCV000408474.1, RCV000408579.1, RCV000415097.1,


GET Evidence
ABCA4-G863A
aa_change Gly863Ala
aa_change_short G863A
impact pathogenic
qualified_impact High clinical importance, pathogenic
overall_frequency 0.00492657
summary Various publications report this variant causes Stargardt Disease in a recessive manner, when combined with another more severe variant. Stargardt disease causes progressive vision loss and blindness.