Allele Registry

Canonical Allele Identifier: CA340933

Gene: MT-ND6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.14495A>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010330

RCV002260588

ClinVar Variation:

9691

dbSNP:

199476106

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14495A>G , J01415.2:m.14495A>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.179T>C	ENSP00000354665.2:p.Leu60Ser

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