Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Gly848Ser (p.G848S)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Gly848Ser (p.G848S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
- ClinVar Allele ID
- 28541
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2542G>A
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2542G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-03-24
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014450
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
- Observed Origin Sample
- germline
- Pubmed
- 17426723
- Pubmed
- 15929042
- Pubmed
- 16177225
- Pubmed
- 19307547
- Pubmed
- 12872260
- Pubmed
- 12210792
Drugs