Allele Registry

Canonical Allele Identifier: CA16043602

Gene: MT-ND6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.14598T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000415203

RCV000855133

ClinVar Variation:

374080

dbSNP:

1057518882

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14598T>C , J01415.2:m.14598T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361681.2:c.76A>G	ENSP00000354665.2:p.Ile26Val

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