The PTH1R gene homepage

General information
Gene symbol PTH1R
Gene name parathyroid hormone 1 receptor
Chromosome 3
Chromosomal band p22-p21.1
Imprinted Unknown
Genomic reference NG_008864.1
Transcript reference NM_000316.2
Exon/intron information NM_000316.2 exon/intron table
Associated with diseases BOCD, Eiken, MCDJ, Ollier, PFE
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Giovanna Mantovani, Guiomar Perez de Nanclares, and Francesca Marta Elli
Total number of public variants reported 97
Unique public DNA variants reported 54
Individuals with public variants 120
Hidden variants 3
Download all this gene's data Download all data
Notes alias: PTHR1

Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version PTH1R:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000316.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/PTH1R
HGNC 9608
Entrez Gene 5745
PubMed articles PTH1R
OMIM - Gene 168468
OMIM - Diseases BOCD (chondrodysplasia, Blomstrand type (BOCD))
Eiken (Eiken syndrome (Eiken))
MCDJ (chondrodysplasia, metaphyseal, Murk Jansen type)
Ollier (enchondromatosis, multiple, Ollier type)
PFE (tooth eruption, failure, primary (PFE))
HGMD PTH1R
GeneCards PTH1R
GeneTests PTH1R
Orphanet PTH1R


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017115 3 transcript variant 1 NM_000316.2 NP_000307.1 97


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