Allele Registry

Canonical Allele Identifier: CA120580

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.14709T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010241

RCV000032996

RCV000495337

RCV000851098

RCV001089486

ClinVar Variation:

9617

dbSNP:

121434453

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14709T>C , J01415.2:m.14709T>C	GRCh38

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