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Gene entry

PTH1R

parathyroid hormone 1 receptor

Chromosome
3
Cytoband
3p21.31
Variants (rsID)
9

PTH1R is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “parathyroid hormone 1 receptor”. The reference table lists 9 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs1138518Benignsingle nucleotide variantChondrodysplasia Blomstrand type|Metaphyseal chondrodysplasia, Jansen type|Primary failure of tooth eruption|Eiken syndrome
  • rs121434601Benignsingle nucleotide variantMetaphyseal chondrodysplasia, Jansen type|Chondrodysplasia Blomstrand type|Connective tissue disorder
  • rs141466964Benignsingle nucleotide variantChondrodysplasia Blomstrand type|Metaphyseal chondrodysplasia, Jansen type
  • rs77048718Benignsingle nucleotide variantMetaphyseal chondrodysplasia, Jansen type|Chondrodysplasia Blomstrand type|Connective tissue disorder
  • rs121434602Pathogenicsingle nucleotide variantMetaphyseal chondrodysplasia, Jansen type

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.