Allele Registry

Canonical Allele Identifier: CA120598

Gene: MT-ATP6 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.8851T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010280

RCV000144005

RCV001268336

RCV001542705

RCV002221472

ClinVar Variation:

9645

dbSNP:

199476136

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8851T>C , J01415.2:m.8851T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.325T>C	ENSP00000354632.2:p.Ter109Arg

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