M1I (p.Met1Ile) variant of CDKN1C (P49918)
M1I (p.Met1Ile) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Beckwith-Wiedemann syndrome. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2494391518
- ClinGen CA379148048
- ClinVar RCV003503920
- Likely pathogenic
- Beckwith-Wiedemann syndrome
- Missense
- ClinVar: Likely pathogenic (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)