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rs386829069

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9191
GeneATP6
is asnp
is mentioned by
dbSNPrs386829069
dbSNP (classic)rs386829069
ClinGenrs386829069
ebirs386829069
HLIrs386829069
Exacrs386829069
Gnomadrs386829069
Varsomers386829069
LitVarrs386829069
Maprs386829069
PheGenIrs386829069
Biobankrs386829069
1000 genomesrs386829069
hgdprs386829069
ensemblrs386829069
geneviewrs386829069
scholarrs386829069
googlers386829069
pharmgkbrs386829069
gwascentralrs386829069
openSNPrs386829069
23andMers386829069
23andMe allrs386829069
SNPshotrs386829069
SNPdbers386829069
MSV3drs386829069
GWAS Ctlgrs386829069
Merged fromRs397507451
Max Magnitude3

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,