rs281865192

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	carrier of one Leber Congenital Amaurosis allele
(G;G)	6	Leber Congenital Amaurosis (blindness)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88101183

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs281865192
dbSNP (classic)	rs281865192
ClinGen	rs281865192
ebi	rs281865192
HLI	rs281865192
Exac	rs281865192
Gnomad	rs281865192
Varsome	rs281865192
LitVar	rs281865192
Map	rs281865192
PheGenI	rs281865192
Biobank	rs281865192
1000 genomes	rs281865192
hgdp	rs281865192
ensembl	rs281865192
geneview	rs281865192
scholar	rs281865192
google	rs281865192
pharmgkb	rs281865192
gwascentral	rs281865192
openSNP	rs281865192
23andMe	rs281865192
SNPshot	rs281865192
SNPdbe	rs281865192
MSV3d	rs281865192
GWAS Ctlg	rs281865192

Max Magnitude

6

rs281865192, also known as c.2991+1655A>G and p.Cys998X, is a mutation in the CEP290 gene on chromosome 12.

When inherited in a recessive manner, the rs281865192(G) allele is reported to lead to Leber Congenital Amaurosis, the most common form of congenital blindness. This mutation is considered the most common LCA mutation in the CEP290 gene.[PMID 16909394 ]

A company, ProQR Therapeutics, is developing a therapeutic to specifically treat LCA patients carrying Cys998X mutations.

Also: Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	Rs281865192(G;G)
Alt	Rs281865192(G;G)
Reference	Rs281865192(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 10 not provided Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Leber congenital amaurosis 10 not provided Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88494960T>C
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001400.6, RCV000086286.2, RCV000301403.1,

[PMID 16909394 ] Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.