Allele Registry

Canonical Allele Identifier: CA120646

Gene: MT-ND1 HGNC NCBI

ClinGen Classification:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010370

RCV000143998

RCV000735416

RCV000757484

RCV003319165

ClinVar Variation:

9722

dbSNP:

199476118

MyVariant.info:

GRCh38 chrMT:g.3460G>A

HGVS	Genome Assembly
NC_012920.1:m.3460G>A , J01415.2:m.3460G>A	GRCh38

HGVS	Amino-acid Change
ENST00000361390.2:c.154G>A	ENSP00000354687.2:p.Ala52Thr