Allele Registry

Canonical Allele Identifier: CA345916

Gene: MT-ND3 HGNC NCBI

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.10254G>A

ClinVar RCV:

RCV000144012

ClinVar Variation:

155887

dbSNP:

587776438

HGVS	Genome Assembly
NC_012920.1:m.10254G>A , J01415.2:m.10254G>A	GRCh38

HGVS	Amino-acid Change
ENST00000361227.2:c.196G>A	ENSP00000355206.2:p.Asp66Asn