Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Arg3Pro (p.R3P), POLGARF p.Pro21= (p.P21=)
(
ENST00000706918.1,
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Arg3Pro (p.R3P), POLGARF p.Pro21= (p.P21=) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 ) - Associated Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.8G>C (p.Arg3Pro) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- ClinVar Allele ID
- 28537
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.8G>C
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.8G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014445
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Observed Origin Sample
- germline
- Pubmed
- 11431686
Drugs