C12S (p.Cys12Ser) variant of ERCC5 (P28715)
C12S (p.Cys12Ser) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, group G.
C12S (p.Cys12Ser) variant details
- p.Cys12Ser
- TOPMed rs1566461950
- Uncertain significance
- Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, group G
- Missense
- ClinVar: Uncertain significance (Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, gro)
- UniProt: Uncertain significance