Allele Registry

Canonical Allele Identifier: CA340929

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinGen Classification:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010285

RCV000754649

RCV001542708

RCV001543462

RCV002221473

ClinVar Variation:

9650

dbSNP:

199476135

MyVariant.info:

GRCh38 chrMT:g.9176T>G

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.9176T>G , J01415.2:m.9176T>G	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361899.2:c.650T>G	ENSP00000354632.2:p.Leu217Arg

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