Annotation Detail
Information
- Associated Genes
- POLG POLGARF
- Associated Variants
-
POLG p.Arg227Trp (p.R227W), POLGARF p.Ala245Val (p.A245V)
(
ENST00000706918.1,
ENST00000268124.11,
ENST00000636937.2,
ENST00000442287.6 )
POLG p.Arg227Trp (p.R227W), POLGARF p.Ala245Val (p.A245V) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2, ENST00000706918.1 ) - Associated Disease
- mitochondrial DNA depletion syndrome 4b
- Source Database
- ClinVar
- Description
- NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND Mitochondrial DNA depletion syndrome 4b
- ClinVar Allele ID
- 28554
- ClinVar RefSeq Alternation Syntax
- NM_001126131.2:c.679C>T
- ClinVar RefSeq Alternation Syntax
- NM_002693.3:c.679C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-03-24
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014469
- ClinVar Disease
- Mitochondrial DNA depletion syndrome 4b
- Observed Origin Sample
- germline
- Pubmed
- 19307547
Drugs