rs119466000
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier for Leigh syndrome, French Canadian type allele |
| (T;T) | 5 | Leigh syndrome, French Canadian type |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 43974244 |
| Gene | LRPPRC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119466000 |
| dbSNP (classic) | rs119466000 |
| ClinGen | rs119466000 |
| ebi | rs119466000 |
| HLI | rs119466000 |
| Exac | rs119466000 |
| Gnomad | rs119466000 |
| Varsome | rs119466000 |
| LitVar | rs119466000 |
| Map | rs119466000 |
| PheGenI | rs119466000 |
| Biobank | rs119466000 |
| 1000 genomes | rs119466000 |
| hgdp | rs119466000 |
| ensembl | rs119466000 |
| geneview | rs119466000 |
| scholar | rs119466000 |
| rs119466000 | |
| pharmgkb | rs119466000 |
| gwascentral | rs119466000 |
| openSNP | rs119466000 |
| 23andMe | rs119466000 |
| SNPshot | rs119466000 |
| SNPdbe | rs119466000 |
| MSV3d | rs119466000 |
| GWAS Ctlg | rs119466000 |
| Max Magnitude | 5 |
rs119466000, also known as c.1061C>T, p.Ala354Val and A354V, represents a rare variant in the LRPPRC gene on chromosome 2.
The rs119466000(T) allele, when inherited recessively, in considered pathogenic for a form of Leigh syndrome known as the French-Canadian type, due to this being a founder mutation in that population.
23andMe name: i5012749
| ClinVar | |
|---|---|
| Risk | Rs119466000(T;T) |
| Alt | Rs119466000(T;T) |
| Reference | Rs119466000(C;C) |
| Significance | Pathogenic |
| Disease | Leigh syndrome |
| Variation | info |
| Gene | LRPPRC |
| CLNDBN | Leigh syndrome, French Canadian type |
| Reversed | 1 |
| HGVS | NC_000002.11:g.44201383G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003257.4, |
