rs386829069
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Likely miscall if from Ancestry data; otherwise, Leigh syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs386829069(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | MT |
| Position | 9191 |
| Gene | ATP6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386829069 |
| dbSNP (classic) | rs386829069 |
| ClinGen | rs386829069 |
| ebi | rs386829069 |
| HLI | rs386829069 |
| Exac | rs386829069 |
| Gnomad | rs386829069 |
| Varsome | rs386829069 |
| LitVar | rs386829069 |
| Map | rs386829069 |
| PheGenI | rs386829069 |
| Biobank | rs386829069 |
| 1000 genomes | rs386829069 |
| hgdp | rs386829069 |
| ensembl | rs386829069 |
| geneview | rs386829069 |
| scholar | rs386829069 |
| rs386829069 | |
| pharmgkb | rs386829069 |
| gwascentral | rs386829069 |
| openSNP | rs386829069 |
| 23andMe | rs386829069 |
| SNPshot | rs386829069 |
| SNPdbe | rs386829069 |
| MSV3d | rs386829069 |
| GWAS Ctlg | rs386829069 |
| Merged from | Rs397507451 |
| Max Magnitude | 3 |
Known as T9191C in most publications, the original report of pathogenicity for rs386829069(C) is [PMID 16217706]. A functional study published in 2014 of this mutation reported a nearly complete block in yeast Atp6p assembly and an >95% drop in the rate of ATP synthesis for this variant in a yeast assay.[PMID 24316278]
This position appears to be prone to being miscalled on some DNA chips as well as in certain sequencing pipelines; the reason for this is unclear.
| ClinVar | |
|---|---|
| Risk | Rs386829069(C;C) |
| Alt | Rs386829069(C;C) |
| Reference | Rs386829069(T;T) |
| Significance | Pathogenic |
| Disease | Leigh syndrome |
| Variation | info |
| Gene | ATP6 |
| CLNDBN | Leigh syndrome |
| Reversed | 0 |
| HGVS | NC_012920.1:m.9191T>C |
| CLNSRC | |
| CLNACC | RCV000144006.2, |
