PTPN23 protein tyrosine phosphatase non-receptor type 23

Information
Symbol
PTPN23
Type
protein-coding
Description
protein tyrosine phosphatase non-receptor type 23
Entrez Gene ID
25930
Genome
hg19
Position
chr3:47,422,511-47,454,925
Genome
hg38
Position
chr3:47,381,021-47,413,435
MIM
606584 OMIM
HGNC
HGNC:14406 HGNC
Ensembl
ENSG00000076201 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 48
Likely pathogenic 0 24
Benign 0 110
Likely benign 0 1,190
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 1,234
Ranking
ClinVar
0
0
330
2,226
12
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 :
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 :
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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 HD-PTP
SYNONYM HDPTP
SYNONYM NEDBASS
SYNONYM PTP-TD14
MIM 606584 OMIM
HGNC HGNC:14406 HGNC
Ensembl ENSG00000076201 Ensembl
AllianceGenome HGNC:14406
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265562.5 hg38 chr3 47,381,021 47,413,435 32,415
ENST00000265562.5 hg19 chr3 47,422,511 47,454,925 32,415
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