View genomic variant #0000013694

Chromosome M
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) m.9163G>A
Published as -
Segregation -
DB-ID chrM_000979 See all 2 reported entries
MSCV MSCV_0004973
dbSNP ID -
Frequency -
Sources ; Somatic:COSMIC;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD

Variant on transcripts

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ClinVar @ MSeqDR

RCVaccession RCV000854463;
Chromosome M:9163..9163
ClinVar Allele ID 681649
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.9163G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 2298010
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: