A69D (p.Ala69Asp) variant of RIT1 (GTP-binding protein Rit1)
A69D (p.Ala69Asp) 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 8. The record also includes published literature and structural context.
A69D (p.Ala69Asp) variant details
- p.Ala69Asp
- rs2527182321
- ClinGen CA342803295
- ClinVar RCV003741682
- Uncertain significance
- Noonan syndrome 8
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)