View genomic variant #0000026888

Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.12521510C>G
Published as -
Segregation -
DB-ID chr1_000512
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Retrieve
Owner Lishuang Shen

Variant on transcripts

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ClinVar @ MSeqDR

RCVaccession RCV003110166;
Chromosome 1:12521510..12521510
ClinVar Allele ID 2401883
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 000001.10:g.12521510C>G
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. VPS13D:55187
Molecular consequence SO:0001627|intron variant
Allele origin maternal
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: