Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Thr251Ile (p.T251I)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Thr251Ile (p.T251I) ( 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.752C>T (p.Thr251Ile) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- ClinVar Allele ID
- 28542
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.752C>T
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.752C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014447
- ClinVar Disease
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 12297582
- Pubmed
- 15349879
- Pubmed
- 12210792
- Pubmed
- 12825077
Drugs