Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Pro587Leu (p.P587L)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Pro587Leu (p.P587L) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- Progressive sclerosing poliodystrophy mitochondrial DNA depletion syndrome 4b
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) AND multiple conditions
- ClinVar Allele ID
- 28544
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.1760C>T
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.1760C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001004602
- ClinVar Disease
- Progressive sclerosing poliodystrophy
- ClinVar Disease
- Mitochondrial DNA depletion syndrome 4b
- Observed Origin Sample
- germline
Drugs