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rs281865192

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome12
Position88101183
GeneCEP290
is asnp
is mentioned by
dbSNPrs281865192
ebirs281865192
HLIrs281865192
Exacrs281865192
Varsomers281865192
Maprs281865192
PheGenIrs281865192
hapmaprs281865192
1000 genomesrs281865192
hgdprs281865192
ensemblrs281865192
gopubmedrs281865192
geneviewrs281865192
scholarrs281865192
googlers281865192
pharmgkbrs281865192
gwascentralrs281865192
openSNPrs281865192
23andMers281865192
23andMe allrs281865192
SNP Nexus

SNPshotrs281865192
SNPdbers281865192
MSV3drs281865192
GWAS Ctlgrs281865192
Max Magnitude6

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 16909394OA-icon.png]

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


ClinVar
Risk rs281865192(G;G)
Alt rs281865192(G;G)
Reference rs281865192(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 10 not provided
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10 not provided
Reversed 1
HGVS NC_000012.11:g.88494960T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001400.5, RCV000086286.1,



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