G272R (p.Gly272Arg) variant of FGFR2 (P21802)
G272R (p.Gly272Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant FGFR2-related disorders; Beare-Stevenson cutis gyrata syndrom. The record also includes structural context.
G272R (p.Gly272Arg) variant details
- p.Gly272Arg
- cosmic curated COSV60646
- Ensembl rs2134315671
- cosmic curated COSV10966
- Pathogenic/Likely pathogenic
- Autosomal dominant FGFR2-related disorders; Beare-Stevenson cutis gyrata syndrom
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant FGFR2-related disorders; Beare-Stevenson cuti)
- UniProt: Likely pathogenic (in an ovarian serous carcinoma sample)
- Structural context available