Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Tyr955Cys (p.Y955C)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- ClinVar Allele ID
- 28534
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2864A>G
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2864A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-09-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014439
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- Observed Origin Sample
- germline
- Pubmed
- 2725645
- Pubmed
- 2067633
- Pubmed
- 11897778
- Pubmed
- 12210792
- Pubmed
- 11431686
- Pubmed
- 15351195
- Pubmed
- 14467368
Drugs