ITPKC inositol-trisphosphate 3-kinase C

Information
Symbol
ITPKC
Type
protein-coding
Description
inositol-trisphosphate 3-kinase C
Entrez Gene ID
80271
Genome
hg19
Position
chr19:41,223,017-41,246,765
Genome
hg38
Position
chr19:40,717,112-40,740,860
MIM
606476 OMIM
HGNC
HGNC:14897 HGNC
Ensembl
ENSG00000086544 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 18
Uncertain significance 0 108
Ranking
ClinVar
0
0
0
126
2
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 IP3-3KC
SYNONYM IP3KC
MIM 606476 OMIM
HGNC HGNC:14897 HGNC
Ensembl ENSG00000086544 Ensembl
AllianceGenome HGNC:14897
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263370.3 hg38 chr19 40,717,112 40,740,860 23,749
ENST00000699489.1 hg38 chr19 40,717,136 40,740,838 23,703
ENST00000699490.1 hg38 chr19 40,717,136 40,740,847 23,712
ENST00000263370.3 hg19 chr19 41,223,017 41,246,765 23,749
ENST00000699489.1 hg19 chr19 41,223,041 41,246,743 23,703
ENST00000699490.1 hg19 chr19 41,223,041 41,246,752 23,712
Genome browser