Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Ser511Asn (p.S511N)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Ser511Asn (p.S511N) ( 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.1532G>A (p.Ser511Asn) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- ClinVar Allele ID
- 28553
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1532G>A
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1532G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014468
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- Observed Origin Sample
- germline
- Pubmed
- 17420318
Drugs