Allele Registry

Canonical Allele Identifier: CA254847

Gene:

Linked Data

ClinGen Classification:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

ClinVar RCV:

RCV000010262

RCV000010263

RCV000722075

RCV001449811

RCV001787322

RCV001787383

RCV001787384

RCV001787385

RCV001787386

RCV002291211

RCV004554598

ClinVar Variation:

9632

dbSNP:

267606619

MyVariant.info:

GRCh38 chrMT:g.1494C>T

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.1494C>T , J01415.2:m.1494C>T	GRCh38

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