R24C (p.Arg24Cys) variant of POLG (DNA polymerase subunit gamma-1)
R24C (p.Arg24Cys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive sclerosing poliodystrophy. The record also includes population frequency data, published literature, and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- rs1196273210
- ClinGen CA10602296
- ClinVar RCV000758484
- TOPMed rs1196273210
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)