C41Y (p.Cys41Tyr) variant of TSHR (Thyrotropin receptor)
C41Y (p.Cys41Tyr) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CHNG1. The record also includes structural context.
C41Y (p.Cys41Tyr) variant details
- p.Cys41Tyr
- ESP rs121908869
- ExAC rs121908869
- TOPMed rs121908869
- gnomAD rs121908869
- Pathogenic
- in CHNG1
- Missense
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Structural context available