rs386829069

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
google	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,