PTH1R parathyroid hormone 1 receptor

Information
Symbol
PTH1R
Type
protein-coding
Description
parathyroid hormone 1 receptor
Entrez Gene ID
5745
Genome
hg19
Position
chr3:46,919,211-46,945,289
Genome
hg38
Position
chr3:46,877,721-46,903,799
MIM
168468 OMIM
HGNC
HGNC:9608 HGNC
Ensembl
ENSG00000160801 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 30
Likely pathogenic 0 10
Benign 0 62
Likely benign 0 188
Conflicting classifications of pathogenicity 0 52
Uncertain significance 4 324
Ranking
ClinVar
0
0
106
442
34
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EKNS
SYNONYM PFE
SYNONYM PTHR
SYNONYM PTHR1
MIM 168468 OMIM
HGNC HGNC:9608 HGNC
Ensembl ENSG00000160801 Ensembl
AllianceGenome HGNC:9608
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000449590.6 hg38 chr3 46,877,721 46,903,799 26,079
ENST00000313049.9 hg38 chr3 46,883,357 46,903,794 20,438
ENST00000418619.5 hg38 chr3 46,880,245 46,903,795 23,551
ENST00000430002.6 hg38 chr3 46,882,249 46,903,755 21,507
ENST00000449590.6 hg19 chr3 46,919,211 46,945,289 26,079
ENST00000418619.5 hg19 chr3 46,921,735 46,945,285 23,551
ENST00000430002.6 hg19 chr3 46,923,739 46,945,245 21,507
ENST00000313049.9 hg19 chr3 46,924,847 46,945,284 20,438
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