rs397515360

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	5	Achromatopsia
(-;C)	3	Carrier of an achromatopsia mutation
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

8

Position

86643781

Gene

CNGB3

is a	snp
is	mentioned by
dbSNP	rs397515360
dbSNP (classic)	rs397515360
ClinGen	rs397515360
ebi	rs397515360
HLI	rs397515360
Exac	rs397515360
Gnomad	rs397515360
Varsome	rs397515360
LitVar	rs397515360
Map	rs397515360
PheGenI	rs397515360
Biobank	rs397515360
1000 genomes	rs397515360
hgdp	rs397515360
ensembl	rs397515360
geneview	rs397515360
scholar	rs397515360
google	rs397515360
pharmgkb	rs397515360
gwascentral	rs397515360
openSNP	rs397515360
23andMe	rs397515360
SNPshot	rs397515360
SNPdbe	rs397515360
MSV3d	rs397515360
GWAS Ctlg	rs397515360

Max Magnitude

5

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.

23andMe name: i5012559

ClinVar
Risk	Rs397515360(-;-)
Alt	Rs397515360(-;-)
Reference	Rs397515360(C;C)
Significance	Pathogenic
Disease	Achromatopsia 3 Stargardt disease 1 not provided Stargardt Disease Achromatopsia
Variation	info
Gene	CNGB3
CLNDBN	Achromatopsia 3 Stargardt disease 1 not provided Stargardt Disease, Recessive Achromatopsia
Reversed	1
HGVS	NC_000008.10:g.87656009delG
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000005535.3, RCV000005536.2, RCV000081978.4, RCV000273066.1, RCV000328174.1,