OCRL OCRL inositol polyphosphate-5-phosphatase

Information
Symbol
OCRL
Type
protein-coding
Description
OCRL inositol polyphosphate-5-phosphatase
Entrez Gene ID
4952
Genome
hg19
Position
chrX:128,674,236-128,726,533
Genome
hg38
Position
chrX:129,540,259-129,592,556
MIM
300535 OMIM
HGNC
HGNC:8108 HGNC
Ensembl
ENSG00000122126 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 27 140
Likely pathogenic 0 100
Benign 0 128
Likely benign 0 654
Conflicting classifications of pathogenicity 0 54
not provided 6 50
Uncertain significance 0 300
Ranking
ClinVar
0
0
138
1,102
38
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 DENT2
SYNONYM Dent-2
SYNONYM INPP5F
SYNONYM LOCR
SYNONYM NPHL2
SYNONYM OCRL-1
SYNONYM OCRL1
MIM 300535 OMIM
HGNC HGNC:8108 HGNC
Ensembl ENSG00000122126 Ensembl
AllianceGenome HGNC:8108
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371113.9 hg38 chrX 129,540,259 129,592,556 52,298
ENST00000357121.5 hg38 chrX 129,540,275 129,592,561 52,287
ENST00000371113.9 hg19 chrX 128,674,236 128,726,533 52,298
ENST00000357121.5 hg19 chrX 128,674,252 128,726,538 52,287
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