S28C (p.Ser28Cys) variant of POLG (DNA polymerase subunit gamma-1)
S28C (p.Ser28Cys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Progressive sclerosing poliodystrophy. The record also includes published literature and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- rs1567194544
- ClinGen CA10602299
- ClinVar RCV000758487
- Ensembl rs1567194544
- Likely benign
- Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Likely benign (Progressive sclerosing poliodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)