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rs397515360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5 Achromatopsia
(-;C) 3 Carrier of an achromatopsia mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome8
Position86643781
GeneCNGB3
is asnp
is mentioned by
dbSNPrs397515360
ClinGenrs397515360
ebirs397515360
HLIrs397515360
Exacrs397515360
Varsomers397515360
Maprs397515360
PheGenIrs397515360
hapmaprs397515360
1000 genomesrs397515360
hgdprs397515360
ensemblrs397515360
gopubmedrs397515360
geneviewrs397515360
scholarrs397515360
googlers397515360
pharmgkbrs397515360
gwascentralrs397515360
openSNPrs397515360
23andMers397515360
23andMe allrs397515360
SNP Nexus

SNPshotrs397515360
SNPdbers397515360
MSV3drs397515360
GWAS Ctlgrs397515360
Max Magnitude5

rs397515360, also known as c.1148delC or p.Thr383IlefsX13, represents a rare mutation in the CNGB3 gene on chromosome 8.

Inherited recessively, the rs397515360(-) deletion allele is considered in ClinVar (and BabySeq) to be pathogenic for achromatopsia.

ClinVar
Risk
Alt
Reference Rs397515360(C;C)
Significance Pathogenic
Disease Achromatopsia 3 Stargardt disease 1 not provided
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3 Stargardt disease 1 not provided
Reversed 1
HGVS NC_000008.10:g.87656009delG
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005535.3, RCV000005536.2, RCV000081978.3,