Allele Registry

Canonical Allele Identifier: CA340932

Gene: MT-ND6 HGNC NCBI

ClinGen Classification:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010325

RCV000144018

RCV000223709

RCV003162238

ClinVar Variation:

9688

dbSNP:

199476104

MyVariant.info:

GRCh38 chrMT:g.14484T>C

HGVS	Genome Assembly
NC_012920.1:m.14484T>C , J01415.2:m.14484T>C	GRCh38

HGVS	Amino-acid Change
ENST00000361681.2:c.190A>G	ENSP00000354665.2:p.Met64Val