TSHR Chromosome 14
Thyroid stimulating hormone receptor
Upload your DNA to see your personal genotypes for variants in TSHR.
What This Gene Does
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Glycoprotein hormone receptors
Locus Type
gene with protein product
Location
14q24-q31
Ensembl
ENSG00000165409
Associated Conditions (20)
Hypothyroidism due to TSH receptor mutations
Familial hyperthyroidism due to mutations in TSH receptor
Familial gestational hyperthyroidism
Epilepsy
Developmental delay
autistic features
TSHR-related disorder
Acute myeloid leukemia
Malignant tumor of breast
Inborn genetic diseases
Ovarian cancer
Hyperthyroidism
Thyroid adenoma
hyperfunctioning
somatic
Sarcoma
Smith-Lemli-Opitz syndrome
THYROID CARCINOMA WITH THYROTOXICOSIS
SOMATIC
Congenital hypothyroidism
Key Variants
RS112187344
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
Health Risk
RS121908863
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, Familial gestational hyperthyroidism
Health Risk
RS121908869
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Epilepsy, Developmental delay
Health Risk
RS121908882
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
Health Risk
RS139286618
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, TSHR-related disorder
Health Risk
RS140533848
Conflicting classifications of pathogenicity
Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Acute myeloid leukemia
Health Risk
RS141293178
Conflicting classifications of pathogenicity
Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
Health Risk
RS142063461
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Malignant tumor of breast, Familial hyperthyroidism due to mutations in TSH receptor
Health Risk
RS142122217
Conflicting classifications of pathogenicity
Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
Health Risk
RS142517342
Conflicting classifications of pathogenicity
Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
Health Risk
RS142632518
Conflicting classifications of pathogenicity
Health Risk
RS143773384
Conflicting classifications of pathogenicity
Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
Health Risk
All Variants (129)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2503938650 | Health Risk | Pathogenic | — |
| RS2503942069 | Health Risk | Pathogenic | — |
| RS2503944840 | Health Risk | Pathogenic | — |
| RS2503947416 | Health Risk | Pathogenic | — |
| RS2503949772 | Health Risk | Pathogenic | — |
| RS2503950061 | Health Risk | Pathogenic | Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations |
| RS28937584 | Health Risk | Pathogenic | THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC, THYROID CARCINOMA WITH THYROTOXICOSIS |
| RS756016910 | Health Risk | Pathogenic | Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations |
| RS760400112 | Health Risk | Pathogenic | — |
| RS763679435 | Health Risk | Pathogenic | — |
| RS774078708 | Health Risk | Pathogenic | Familial gestational hyperthyroidism, Familial gestational hyperthyroidism |
| RS776455236 | Health Risk | Pathogenic | — |
| RS777166186 | Health Risk | Pathogenic | — |
| RS778363012 | Health Risk | Pathogenic | — |
| RS779243355 | Health Risk | Pathogenic | — |
| RS1085307573 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor |
| RS121908865 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, Familial gestational hyperthyroidism |
| RS121908866 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Inborn genetic diseases, TSHR-related disorder |
| RS121908871 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor, Familial gestational hyperthyroidism |
| RS121908872 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Inborn genetic diseases, Familial gestational hyperthyroidism |
| RS1320718774 | Health Risk | Pathogenic/Likely pathogenic | Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations |
| RS1330247874 | Health Risk | Pathogenic/Likely pathogenic | Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism |
| RS1595179250 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS189261858 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Congenital hypothyroidism, Ovarian cancer |
| RS746213369 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS756468029 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations |
| RS761918916 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor |
| RS762048531 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS780018604 | Health Risk | Pathogenic/Likely pathogenic | Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism, Familial hyperthyroidism due to mutations in TSH receptor |