Allele Registry

Canonical Allele Identifier: CA120618

Gene: MT-CYB HGNC NCBI

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.15242G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010318

RCV000855252

ClinVar Variation:

9680

dbSNP:

207459999

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.15242G>A , J01415.2:m.15242G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361789.2:c.496G>A	ENSP00000354554.2:p.Gly166Arg

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