F5C (p.Phe5Cys) variant of PCDH15 (Protocadherin-15)
F5C (p.Phe5Cys) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
F5C (p.Phe5Cys) variant details
- p.Phe5Cys
- rs1430074299
- ClinGen CA376542022
- ClinVar RCV001203834
- TOPMed rs1430074299
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance