Allele Registry

Canonical Allele Identifier: CA16040650

Gene: MT-ATP8 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.8418T>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000408923

RCV002248639

ClinVar Variation:

370050

dbSNP:

1057516062

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8418T>C , J01415.2:m.8418T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361851.1:c.53T>C	ENSP00000355265.1:p.Leu18Pro

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