K183R (p.Lys183Arg) variant of TSHR (Thyrotropin receptor)
K183R (p.Lys183Arg) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial gestational hyperthyroidism. The record also includes published literature and structural context.
K183R (p.Lys183Arg) variant details
- p.Lys183Arg
- rs121908879
- ClinGen CA118257
- ClinVar RCV000006824
- Ensembl rs121908879
- Pathogenic
- Familial gestational hyperthyroidism
- Missense
- ClinVar: Pathogenic (Familial gestational hyperthyroidism)
- EBI: Pathogenic (in HTFG)
- UniProt: Pathogenic (in HTFG)
- Structural context available
- Cited in: Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic… (PMID 9854118)