Allele Registry

Canonical Allele Identifier: CA337097543

Gene: MT-CO1 HGNC NCBI

ClinGen Evidence Repository:

Classification Benign

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.7028C>T

ClinVar RCV:

RCV002221702

ClinVar Variation:

1676315

dbSNP:

2015062

HGVS	Genome Assembly
NC_012920.1:m.7028C>T , J01415.2:m.7028C>T	GRCh38

HGVS	Amino-acid Change
ENST00000361624.2:c.1125C>T	ENSP00000354499.2:p.Ala375=