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Variant (rsID / SNP)

rs121434601

PTH1R

rs121434601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTH1R. Location: chromosome 3, position 46,939,587. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PTH1RBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:46939587
Cytoband
3p21.31
HGVS
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys)
Allele change
Missense_R150C

Associated conditions / phenotypes

Metaphyseal chondrodysplasia, Jansen type|Chondrodysplasia Blomstrand type|Connective tissue disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.