PTPRQ protein tyrosine phosphatase receptor type Q

Information
Symbol
PTPRQ
Type
protein-coding
Description
protein tyrosine phosphatase receptor type Q
Entrez Gene ID
374462
Genome
hg19
Position
chr12:80,838,126-81,072,802
Genome
hg38
Position
chr12:80,444,235-80,680,273
MIM
603317 OMIM
HGNC
HGNC:9679 HGNC
Ensembl
ENSG00000139304 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 22
Likely pathogenic 0 30
Benign 0 303
Likely benign 0 203
Conflicting classifications of pathogenicity 0 16
Uncertain significance 0 235
Ranking
ClinVar
0
0
97
649
26
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 :
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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 :
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 DFNA73
SYNONYM DFNB84
SYNONYM DFNB84A
SYNONYM PTPGMC1
SYNONYM R-PTP-Q
MIM 603317 OMIM
HGNC HGNC:9679 HGNC
Ensembl ENSG00000139304 Ensembl
AllianceGenome HGNC:9679
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644991.3 hg38 chr12 80,444,235 80,680,273 236,039
ENST00000616559.4 hg38 chr12 80,435,083 80,680,189 245,107
ENST00000266688.5 hg19 chr12 80,838,126 81,072,802 234,677
ENST00000547485.1 hg19 chr12 80,906,421 80,933,617 27,197
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