Allele Registry

Canonical Allele Identifier: CA120627

Gene: MT-ND6 HGNC NCBI

ClinGen Classification:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010333

RCV000010334

RCV000144020

RCV002247307

RCV003162239

ClinVar Variation:

9694

dbSNP:

199476109

MyVariant.info:

GRCh38 chrMT:g.14487T>C

HGVS	Genome Assembly
NC_012920.1:m.14487T>C , J01415.2:m.14487T>C	GRCh38

HGVS	Amino-acid Change
ENST00000361681.2:c.187A>G	ENSP00000354665.2:p.Met63Val