Have questions? Visit https://www.reddit.com/r/SNPedia

rs10151259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 1 Unaffected carrier of *possible* cone-rod mutation
(T;T) 2 Recessive genotype uncertain pathogenicity
ReferenceGRCh38 38.1/141
Chromosome14
Position21321881
GeneRPGRIP1
is asnp
is mentioned by
dbSNPrs10151259
ebirs10151259
HLIrs10151259
Exacrs10151259
Varsomers10151259
Maprs10151259
PheGenIrs10151259
hapmaprs10151259
1000 genomesrs10151259
hgdprs10151259
ensemblrs10151259
gopubmedrs10151259
geneviewrs10151259
scholarrs10151259
googlers10151259
pharmgkbrs10151259
gwascentralrs10151259
openSNPrs10151259
23andMers10151259
23andMe allrs10151259
SNP Nexus

SNPshotrs10151259
SNPdbers10151259
MSV3drs10151259
GWAS Ctlgrs10151259
GMAF0.1616
Max Magnitude2
OMIM605446
DescCONE-ROD DYSTROPHY 9
Variant0006
Relatedalso
? (G;G) (G;T) (T;T)


ClinVar
Risk rs10151259(T;T)
Alt rs10151259(T;T)
Reference rs10151259(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy 13 not provided not specified
Variation info
Gene RPGRIP1
CLNDBN Cone-rod dystrophy 13 not provided not specified
Reversed 0
HGVS NC_000014.8:g.21790040G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005275.4, RCV000086240.1, RCV000174586.1,



[PMID 18936139OA-icon.png] Mutation survey of known LCA genes and loci in the Saudi Arabian population.


GET Evidence
RPGRIP1-A547S
aa_change Ala547Ser
aa_change_short A547S
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.232202
summary Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.



This SNP has been associated with recessive cone-rod dystrophy but is probably benign:

A study [PMID 12920076OA-icon.png] of four consanguineous Pakistani families found that recessive cone-rod dystrophy (CRD) segregated with this SNP, which results in a Alanine to Serine missense mutation at the amino acid level in the RPGRIP1 protein. CRD manifests as an initial loss of colour vision (cone mediated functions) and of visual acuity, usually from the first or second decade of life, is followed by night blindness (largely rod mediated) and loss of peripheral visual fields. CRD patients also demonstrate severe photophobia.

However, a second study [PMID 16272259OA-icon.png] studying mutations in several genes associated with visual disorders found the SNP has the same frequency in both case and control populations, indicating that this was not the causal mutation in the disease in the Pakistani group.