rs80356560
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356560(C;G) |
| Make rs80356560(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101346595 |
| Gene | TIMM8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356560 |
| dbSNP (classic) | rs80356560 |
| ClinGen | rs80356560 |
| ebi | rs80356560 |
| HLI | rs80356560 |
| Exac | rs80356560 |
| Gnomad | rs80356560 |
| Varsome | rs80356560 |
| LitVar | rs80356560 |
| Map | rs80356560 |
| PheGenI | rs80356560 |
| Biobank | rs80356560 |
| 1000 genomes | rs80356560 |
| hgdp | rs80356560 |
| ensembl | rs80356560 |
| geneview | rs80356560 |
| scholar | rs80356560 |
| rs80356560 | |
| pharmgkb | rs80356560 |
| gwascentral | rs80356560 |
| openSNP | rs80356560 |
| 23andMe | rs80356560 |
| SNPshot | rs80356560 |
| SNPdbe | rs80356560 |
| MSV3d | rs80356560 |
| GWAS Ctlg | rs80356560 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356560(G;G) |
| Alt | rs80356560(G;G) |
| Reference | Rs80356560(C;C) |
| Significance | Pathogenic |
| Disease | Mohr-Tranebjaerg syndrome |
| Variation | info |
| Gene | TIMM8A |
| CLNDBN | Mohr-Tranebjaerg syndrome |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100601583G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012073.12, |
[PMID 10878669] A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
