Allele Registry

Canonical Allele Identifier: CA340928

Gene: MT-ATP6 HGNC NCBI

ClinGen Classification:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010282

RCV000240612

RCV000495689

RCV000754648

RCV001267926

RCV001542709

RCV002267606

RCV003224857

ClinVar Variation:

9647

dbSNP:

199476138

MyVariant.info:

GRCh38 chrMT:g.9185T>C

HGVS	Genome Assembly
NC_012920.1:m.9185T>C , J01415.2:m.9185T>C	GRCh38

HGVS	Amino-acid Change
ENST00000361899.2:c.659T>C	ENSP00000354632.2:p.Leu220Pro