Allele Registry

Canonical Allele Identifier: CA345911

Gene: MT-ND1 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3890G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000144000

RCV002260617

RCV002285011

ClinVar Variation:

155881

dbSNP:

587776434

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3890G>A , J01415.2:m.3890G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.584G>A	ENSP00000354687.2:p.Arg195Gln

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