INPP5K inositol polyphosphate-5-phosphatase K

Information
Symbol
INPP5K
Type
protein-coding
Description
inositol polyphosphate-5-phosphatase K
Entrez Gene ID
51763
Genome
hg19
Position
chr17:1,397,871-1,419,906
Genome
hg38
Position
chr17:1,494,577-1,516,612
MIM
607875 OMIM
HGNC
HGNC:33882 HGNC
Ensembl
ENSG00000132376 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 8
Benign 0 38
Likely benign 0 58
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 76
Ranking
ClinVar
0
0
34
138
16
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
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 MDCCAID
SYNONYM PPS
SYNONYM SKIP
MIM 607875 OMIM
HGNC HGNC:33882 HGNC
Ensembl ENSG00000132376 Ensembl
AllianceGenome HGNC:33882
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320345.10 hg38 chr17 1,494,757 1,516,735 21,979
ENST00000406424.8 hg38 chr17 1,494,609 1,516,742 22,134
ENST00000421807.7 hg38 chr17 1,494,577 1,516,612 22,036
ENST00000406424.8 hg19 chr17 1,397,903 1,420,036 22,134
ENST00000320345.10 hg19 chr17 1,398,051 1,420,029 21,979
ENST00000421807.7 hg19 chr17 1,397,871 1,419,906 22,036
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