R528S (p.Arg528Ser) variant of TSHR (Thyrotropin receptor)
R528S (p.Arg528Ser) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism due to TSH receptor mutations; Familial gestational hyperthyroidi. The record also includes structural context.
R528S (p.Arg528Ser) variant details
- p.Arg528Ser
- ExAC rs765367813
- TOPMed rs765367813
- gnomAD rs765367813
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations; Familial gestational hyperthyroidi
- Missense
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations; Familial gestation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available