Allele Registry

Canonical Allele Identifier: CA340923

Gene: MT-CO1 HGNC NCBI

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.7445A>C

ClinVar RCV:

RCV000010181

ClinVar Variation:

9568

dbSNP:

199474818

HGVS	Genome Assembly
NC_012920.1:m.7445A>C , J01415.2:m.7445A>C	GRCh38

HGVS	Amino-acid Change
ENST00000361624.2:c.1542A>C	ENSP00000354499.2:p.Arg514Ser