View genomic variant #0000026889

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.16382201G>A
Published as -
Segregation -
DB-ID chr1_000188
dbSNP ID -
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Retrieve
Owner Lishuang Shen

Variant on transcripts

0 entries on 0 pages.


Transcript ID     


Variant ID     

Affects function     

Stop! No results have been found that match your criteria.
Please redefine your search criteria.

ClinVar @ MSeqDR

RCVaccession RCV000455750; RCV000711253; RCV001258278;
Chromosome 1:16382201..16382201
Allele frequencies from ESP 0.00984
Allele frequencies from TGP 0.01677
ClinVar Allele ID 389334
Disease database name and identifier MedGen:C3661900|MONDO:MONDO:0014959, MedGen:C4310676, OMIM:617184|MedGen:CN169374
ClinVar preferred disease name not provided|Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant|not specified
HGVS variant names NC 000001.10:g.16382201G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA624069
Gene symbol:Gene id. CLCNKB:1188|LOC106501713:106501713
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 143663847
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information: