Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Tyr955Cys (p.Y955C)
(
ENST00000636937.2,
ENST00000268124.11,
ENST00000442287.6 )
POLG p.Tyr955Cys (p.Y955C) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- mitochondrial DNA depletion syndrome
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Mitochondrial DNA depletion syndrome
- ClinVar Allele ID
- 28534
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.2864A>G
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.2864A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003478975
- ClinVar Disease
- Mitochondrial DNA depletion syndrome
- Observed Origin Sample
- germline
Drugs