Allele Registry

Canonical Allele Identifier: CA120647

Gene: MT-ND1 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

COSMIC:

COSM6119903

COSM6119904

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.3697G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010385

RCV000010386

RCV000056168

RCV002221474

RCV003298030

ClinVar Variation:

9733

dbSNP:

199476122

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3697G>A , J01415.2:m.3697G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361390.2:c.391G>A	ENSP00000354687.2:p.Gly131Ser

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