Allele Registry

Canonical Allele Identifier: CA340934

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.14482C>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010332

RCV002260590

ClinVar Variation:

9693

dbSNP:

199476108

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14482C>A , J01415.2:m.14482C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.192G>T	ENSP00000354665.2:p.Met64Ile

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