Allele Registry

Canonical Allele Identifier: CA254863

Gene: MT-ND1 HGNC NCBI

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.3949T>C

ClinVar RCV:

RCV000010388

ClinVar Variation:

9735

dbSNP:

199476124

HGVS	Genome Assembly
NC_012920.1:m.3949T>C , J01415.2:m.3949T>C	GRCh38

HGVS	Amino-acid Change
ENST00000361390.2:c.643T>C	ENSP00000354687.2:p.Tyr215His