rs147394623

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a retinitis pigmentosa (RP) mutation
(G;G)	4.4	Retinitis pigmentosa, type 59

Reference

GRCh38 38.1/141

Chromosome

1

Position

26438228

Gene

DHDDS

is a	snp
is	mentioned by
dbSNP	rs147394623
dbSNP (classic)	rs147394623
ClinGen	rs147394623
ebi	rs147394623
HLI	rs147394623
Exac	rs147394623
Gnomad	rs147394623
Varsome	rs147394623
LitVar	rs147394623
Map	rs147394623
PheGenI	rs147394623
Biobank	rs147394623
1000 genomes	rs147394623
hgdp	rs147394623
ensembl	rs147394623
geneview	rs147394623
scholar	rs147394623
google	rs147394623
pharmgkb	rs147394623
gwascentral	rs147394623
openSNP	rs147394623
23andMe	rs147394623
SNPshot	rs147394623
SNPdbe	rs147394623
MSV3d	rs147394623
GWAS Ctlg	rs147394623

Max Magnitude

4.4

rs147394623, also known as c.124A>G, p.Lys42Glu and K42E, represents a rare mutation in the DHDDS gene on chromosome 1.

Inherited in an autosomal recessive manner, the rs147394623(G) allele is considered pathogenic for a form of retinitis pigmentosa (type 59 as labeled in OMIM).

This mutation is one of two considered to be a prevalent retinitis pigmentosa founder mutation among Ashkenazi Jews.[PMID 25255364 ]

ClinVar
Risk	Rs147394623(G;G)
Alt	Rs147394623(G;G)
Reference	Rs147394623(A;A)
Significance	Pathogenic
Disease	Retinitis pigmentosa 59
Variation	info
Gene	DHDDS
CLNDBN	Retinitis pigmentosa 59
Reversed	0
HGVS	NC_000001.10:g.26764719A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023687.3,