S63C (p.Ser63Cys) variant of POLG (DNA polymerase subunit gamma-1)
S63C (p.Ser63Cys) 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 See cases; Progressive sclerosing poliodystrophy. The record also includes published literature and structural context.
S63C (p.Ser63Cys) variant details
- p.Ser63Cys
- rs960812250
- ClinGen CA393773780
- ClinVar RCV002253009
- ClinVar RCV005095854
- Uncertain significance
- See cases; Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Uncertain significance (See cases; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)