Variant (rsID / SNP)

rs121434602

rs121434602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTH1R. Location: chromosome 3, position 46,944,033. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTH1RPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:46944033
Cytoband: 3p21.31
HGVS: NM_000316.3(PTH1R):c.1229C>G (p.Thr410Arg)
Allele change: Missense_T410R

Associated conditions / phenotypes

Metaphyseal chondrodysplasia, Jansen type

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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