S36T (p.Ser36Thr) variant of POLG (DNA polymerase subunit gamma-1)
S36T (p.Ser36Thr) 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 not provided; Progressive sclerosing poliodystrophy. The record also includes published literature and structural context.
S36T (p.Ser36Thr) variant details
- p.Ser36Thr
- rs2055629992
- ClinGen CA393774751
- ClinVar RCV002636359
- ClinVar RCV003222438
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- ClinVar: Uncertain significance (not provided; 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)