Q40* (p.Gln40Ter) variant of RIT1 (GTP-binding protein Rit1)
Q40* (p.Gln40Ter) in RIT1 (GTP-binding protein Rit1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- rs1057518189
- ClinGen CA16042341
- ClinVar RCV000414539
- Ensembl rs1057518189
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available