W4* (p.Trp4Ter) variant of FGFR1 (P11362)
W4* (p.Trp4Ter) in FGFR1 (P11362) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in HH2. The record also includes structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- gnomAD rs760884357
- Uncertain significance
- in HH2
- Stop Gained
- EBI: uncertain significance (in HH2)
- UniProt: Uncertain significance (in HH2)
- Structural context available