Gene entry
TSHR
thyroid stimulating hormone receptor
- Chromosome
- 14
- Cytoband
- 14q31.1
- Variants (rsID)
- 63
TSHR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q31.1). Its official name is “thyroid stimulating hormone receptor”. The reference table lists 63 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs2234919Benignsingle nucleotide variantHypothyroidism due to TSH receptor mutations|Familial hyperthyroidism due to mutations in TSH receptor|Familial gestational hyperthyroidism
- rs2268477Benignsingle nucleotide variantFamilial hyperthyroidism due to mutations in TSH receptor|Hypothyroidism due to TSH receptor mutations
- rs2288496Benignsingle nucleotide variantFamilial hyperthyroidism due to mutations in TSH receptor|Hypothyroidism due to TSH receptor mutations
- rs121908866Conflicting interpretationssingle nucleotide variantHypothyroidism due to TSH receptor mutations|Familial hyperthyroidism due to mutations in TSH receptor
- rs121908872Conflicting interpretationssingle nucleotide variantHypothyroidism due to TSH receptor mutations|Familial hyperthyroidism due to mutations in TSH receptor
- rs150602845Conflicting interpretationssingle nucleotide variantFamilial hyperthyroidism due to mutations in TSH receptor|Hypothyroidism due to TSH receptor mutations
- rs189261858Conflicting interpretationssingle nucleotide variantHypothyroidism due to TSH receptor mutations|Congenital hypothyroidism|Familial hyperthyroidism due to mutations in TSH receptor
- rs189506473Conflicting interpretationssingle nucleotide variantHypothyroidism due to TSH receptor mutations|Familial hyperthyroidism due to mutations in TSH receptor
- rs61742289Likely benignsingle nucleotide variant
- rs121908865Pathogenicsingle nucleotide variantHypothyroidism due to TSH receptor mutations
- rs121908868Pathogenicsingle nucleotide variantHypothyroidism due to TSH receptor mutations
- rs121908869Pathogenicsingle nucleotide variantHypothyroidism due to TSH receptor mutations|autistic features|Developmental delay|Epilepsy|Familial hyperthyroidism due to mutations in TSH receptor
- rs121908871Pathogenicsingle nucleotide variantHypothyroidism due to TSH receptor mutations
- rs121908882Pathogenicsingle nucleotide variantHypothyroidism due to TSH receptor mutations
- rs3783942Not classifiedsynonymous_variant
Other listed variants
- rs917986
- rs2110695
- rs2284735
- rs2300542
- rs4903964
- rs4903965
- rs6574626
- rs6574628
- rs7143719
- rs7148630
- rs7151098
- rs8003061
- rs10151660
- rs12101261
- rs17544306
- rs17545310
- rs17546166
- rs28491084
- rs36093037
- rs57632490
- rs61980877
- rs71416860
- rs72627197
- rs74492444
- rs74587938
- rs74899619
- rs74980178
- rs76213566
- rs77074657
- rs78238394
- rs79035378
- rs79746054
- rs112888826
- rs113783404
- rs114044445
- rs114818008
- rs114939494
- rs117243405
- rs117544714
- rs117631391
- rs117781175
- rs118125928
- rs151264748
- rs183453407
- rs187930022
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.