F34S (p.Phe34Ser) variant of CDKN1C (P49918)
F34S (p.Phe34Ser) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Beckwith-Wiedemann syndrome. The record also includes structural context.
F34S (p.Phe34Ser) variant details
- p.Phe34Ser
- NCI-TCGA TCGA novel
- Likely pathogenic
- Beckwith-Wiedemann syndrome
- Missense
- ClinVar: Likely pathogenic (Beckwith-Wiedemann syndrome)
- UniProt: Likely pathogenic
- Structural context available