R72G (p.Arg72Gly) variant of CDKN1C (P49918)
R72G (p.Arg72Gly) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Beckwith-Wiedemann syndrome. The record also includes published literature and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- rs2494389853
- ClinGen CA379147372
- ClinVar RCV002761549
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)