PTPRH protein tyrosine phosphatase receptor type H

Information
Symbol
PTPRH
Type
protein-coding
Description
protein tyrosine phosphatase receptor type H
Entrez Gene ID
5794
Genome
hg19
Position
chr19:55,692,615-55,720,869
Genome
hg38
Position
chr19:55,181,247-55,209,501
MIM
602510 OMIM
HGNC
HGNC:9672 HGNC
Ensembl
ENSG00000080031 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 24
Uncertain significance 0 140
Ranking
ClinVar
0
0
0
164
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 :
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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 :
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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 R-PTP-H
SYNONYM SAP1
MIM 602510 OMIM
HGNC HGNC:9672 HGNC
Ensembl ENSG00000080031 Ensembl
AllianceGenome HGNC:9672
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263434.5 hg38 chr19 55,181,248 55,209,456 28,209
ENST00000376350.8 hg38 chr19 55,181,247 55,209,501 28,255
ENST00000376350.8 hg19 chr19 55,692,615 55,720,869 28,255
ENST00000263434.5 hg19 chr19 55,692,616 55,720,824 28,209
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