Allele Registry

Canonical Allele Identifier: CA250380

Gene: MT-ATP6 HGNC NCBI

ClinGen Classification:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010273

RCV000010274

RCV000191106

RCV000224643

RCV000414771

RCV000495419

RCV000754646

RCV001376274

RCV001542706

RCV002285006

ClinVar Variation:

9641

dbSNP:

199476133

MyVariant.info:

GRCh38 chrMT:g.8993T>G

HGVS	Genome Assembly
NC_012920.1:m.8993T>G , J01415.2:m.8993T>G	GRCh38

HGVS	Amino-acid Change
ENST00000361899.2:c.467T>G	ENSP00000354632.2:p.Leu156Arg