Allele Registry

Canonical Allele Identifier: CA120554

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.8356T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010195

RCV000010196

RCV000850957

RCV003162231

ClinVar Variation:

9580

dbSNP:

118192099

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8356T>C , J01415.2:m.8356T>C	GRCh38

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