PTHLH parathyroid hormone like hormone

Information
Symbol
PTHLH
Type
protein-coding
Description
parathyroid hormone like hormone
Entrez Gene ID
5744
Genome
hg19
Position
chr12:28,111,017-28,125,666
Genome
hg38
Position
chr12:27,958,084-27,972,733
MIM
168470 OMIM
HGNC
HGNC:9607 HGNC
Ensembl
ENSG00000087494 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 8
Benign 4 8
Likely benign 0 40
Conflicting classifications of pathogenicity 0 2
not provided 1 0
Uncertain significance 0 82
Ranking
ClinVar
0
0
10
138
8
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 BDE2
SYNONYM HHM
SYNONYM PLP
SYNONYM PTHR
SYNONYM PTHRP
MIM 168470 OMIM
HGNC HGNC:9607 HGNC
Ensembl ENSG00000087494 Ensembl
AllianceGenome HGNC:9607
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000545234.6 hg38 chr12 27,958,084 27,972,733 14,650
ENST00000395872.5 hg38 chr12 27,958,084 27,971,970 13,887
ENST00000539239.5 hg38 chr12 27,958,270 27,969,561 11,292
ENST00000538310.1 hg38 chr12 27,961,668 27,969,494 7,827
ENST00000395868.7 hg38 chr12 27,962,587 27,970,047 7,461
ENST00000201015.8 hg38 chr12 27,962,322 27,971,983 9,662
ENST00000535992.5 hg38 chr12 27,962,328 27,970,349 8,022
ENST00000395872.5 hg19 chr12 28,111,017 28,124,903 13,887
ENST00000545234.6 hg19 chr12 28,111,017 28,125,666 14,650
ENST00000539239.5 hg19 chr12 28,111,203 28,122,494 11,292
ENST00000538310.1 hg19 chr12 28,114,601 28,122,427 7,827
ENST00000201015.8 hg19 chr12 28,115,255 28,124,916 9,662
ENST00000535992.5 hg19 chr12 28,115,261 28,123,282 8,022
ENST00000395868.7 hg19 chr12 28,115,520 28,122,980 7,461
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