S867R (p.Ser867Arg) variant of SETBP1 (SET-binding protein)

Name: SETBP1 S867R (p.Ser867Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

S867R (p.Ser867Arg) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Schinzel-Giedion syndrome. The record also includes published literature.

S867R (p.Ser867Arg) variant details

p.Ser867Arg
rs376371660
ClinGen CA402321800
ClinVar RCV002510727
ClinVar RCV003443062
Pathogenic/Likely pathogenic
not provided; Schinzel-Giedion syndrome
Missense
ClinVar: Pathogenic/Likely pathogenic (not provided; Schinzel-Giedion syndrome)
EBI: Pathogenic
UniProt: Pathogenic
Cited in: Schinzel-Giedion Syndrome. (PMID 38452171)