Allele Registry

Canonical Allele Identifier: CA269989

Gene: MT-CYB HGNC NCBI

ClinGen Evidence Repository:

Classification Benign

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.15326A>G

ClinVar RCV:

RCV000128807

RCV000855273

RCV002221492

ClinVar Variation:

140592

dbSNP:

2853508

HGVS	Genome Assembly
NC_012920.1:m.15326A>G , J01415.2:m.15326A>G	GRCh38

HGVS	Amino-acid Change
ENST00000361789.2:c.580A>G	ENSP00000354554.2:p.Thr194Ala