Variant (rsID / SNP)

rs141466964

rs141466964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTH1R. Location: chromosome 3, position 46,935,449. 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: 3:46935449
Cytoband: 3p21.31
HGVS: NM_000316.3(PTH1R):c.128G>A (p.Arg43His)
Allele change: Missense_R43H

Associated conditions / phenotypes

Chondrodysplasia Blomstrand type|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.