PTH parathyroid hormone

Information
Symbol
PTH
Type
protein-coding
Description
parathyroid hormone
Entrez Gene ID
5741
Genome
hg19
Position
chr11:13,513,646-13,517,728
Genome
hg38
Position
chr11:13,492,099-13,496,181
MIM
168450 OMIM
HGNC
HGNC:9606 HGNC
Ensembl
ENSG00000152266 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 8
Benign 4 20
Likely benign 0 12
Uncertain significance 0 26
Ranking
ClinVar
0
0
12
50
10
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 FIH1
SYNONYM PTH1
MIM 168450 OMIM
HGNC HGNC:9606 HGNC
Ensembl ENSG00000152266 Ensembl
AllianceGenome HGNC:9606
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000282091.6 hg38 chr11 13,492,054 13,495,997 3,944
ENST00000529816.1 hg38 chr11 13,492,099 13,496,181 4,083
ENST00000282091.6 hg19 chr11 13,513,601 13,517,544 3,944
ENST00000529816.1 hg19 chr11 13,513,646 13,517,728 4,083
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