Allele Registry

Canonical Allele Identifier: CA120602

Gene: MT-CO3 HGNC NCBI

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010292

RCV000144008

ClinVar Variation:

9656

dbSNP:

267606614

HGVS	Genome Assembly
NC_012920.1:m.9537dup , J01415.2:m.9537dup	GRCh38

HGVS	Amino-acid Change
ENST00000362079.2:c.331dup	ENSP00000354982.2:p.Gln111ProfsTer?