Links to SNPedia
Title |
Summary |
rs10151259 T/T
|
Recessive genotype uncertain pathogenicity
}}
a study {{pmid|12920076}} 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|16272259 |
rs10151259 G/G
|
Common in clinvar |
rs10151259 G/T
|
Unaffected carrier of *possible* cone-rod mutation
|
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
Publications on this SNP on Mendeley
There are no Mendeley results yet. Please come back again later.
Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
RPGRIP1 |
Low clinical importance, Uncertain benign |
|
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. |
other |
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: