Allele Registry

Canonical Allele Identifier: CA340936

Gene: MT-ND5 HGNC NCBI

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.13730G>A

ClinVar RCV:

RCV000010337

ClinVar Variation:

9697

dbSNP:

387906425

HGVS	Genome Assembly
NC_012920.1:m.13730G>A , J01415.2:m.13730G>A	GRCh38

HGVS	Amino-acid Change
ENST00000361567.2:c.1394G>A	ENSP00000354813.2:p.Gly465Glu