D51V (p.Asp51Val) variant of RIT1 (GTP-binding protein Rit1)
D51V (p.Asp51Val) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome. The record also includes published literature and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- rs2527197242
- cosmic curated COSV64167
- ClinGen CA342775968
- ClinVar RCV001261141
- Uncertain significance
- Noonan syndrome
- Missense
- ClinVar: Uncertain significance (Noonan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)