Allele Registry

Canonical Allele Identifier: CA340948

Gene: MT-ND1 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.4171C>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010384

RCV002260596

ClinVar Variation:

9732

dbSNP:

28616230

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4171C>A , J01415.2:m.4171C>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.865C>A	ENSP00000354687.2:p.Leu289Ile

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