Allele Registry

Canonical Allele Identifier: CA250589

Gene: MT-ND4L HGNC NCBI

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.10563T>C

ClinVar RCV:

RCV000010352

ClinVar Variation:

9706

dbSNP:

267606892

HGVS	Genome Assembly
NC_012920.1:m.10563T>C , J01415.2:m.10563T>C	GRCh38

HGVS	Amino-acid Change
ENST00000361335.1:c.94T>C	ENSP00000354728.1:p.Cys32Arg