rs121918344
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | Carrier for colorblindness related condition |
| (T;T) | 4 | Complete achromatopsia (color-blindness) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 86632768 |
| Gene | CNGB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918344 |
| dbSNP (classic) | rs121918344 |
| ClinGen | rs121918344 |
| ebi | rs121918344 |
| HLI | rs121918344 |
| Exac | rs121918344 |
| Gnomad | rs121918344 |
| Varsome | rs121918344 |
| LitVar | rs121918344 |
| Map | rs121918344 |
| PheGenI | rs121918344 |
| Biobank | rs121918344 |
| 1000 genomes | rs121918344 |
| hgdp | rs121918344 |
| ensembl | rs121918344 |
| geneview | rs121918344 |
| scholar | rs121918344 |
| rs121918344 | |
| pharmgkb | rs121918344 |
| gwascentral | rs121918344 |
| openSNP | rs121918344 |
| 23andMe | rs121918344 |
| SNPshot | rs121918344 |
| SNPdbe | rs121918344 |
| MSV3d | rs121918344 |
| GWAS Ctlg | rs121918344 |
| Max Magnitude | 4 |
rs121918344, also known as S435F or SER322PHE, is a SNP in the cyclic nucleotide-gated channel beta-3 CNGB3 gene.
Originally observed in Pingelapese islanders, a condition involving total colorblindness, photophobia, nystagmus, 20/200 visual acuity, yet a normal-appearing retina, was eventually found by sequence analysis to be due to a C-to-T transition causing a serine-to-phenylalanine substitution at amino acid 435 of this (CNGB3) gene.[PMID 10888875]
| ClinVar | |
|---|---|
| Risk | Rs121918344(T;T) |
| Alt | Rs121918344(T;T) |
| Reference | Rs121918344(C;C) |
| Significance | Pathogenic |
| Disease | Achromatopsia 3 |
| Variation | info |
| Gene | CNGB3 |
| CLNDBN | Achromatopsia 3 |
| Reversed | 1 |
| HGVS | NC_000008.10:g.87644996G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005532.2, |
