Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Leu304Arg (p.L304R)
(
ENST00000268124.11,
ENST00000636937.2,
ENST00000442287.6 )
POLG p.Leu304Arg (p.L304R) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.911T>G (p.Leu304Arg) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- ClinVar Allele ID
- 28536
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.911T>G
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.911T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014444
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Observed Origin Sample
- germline
- Pubmed
- 11431686
Drugs