ITPR3 inositol 1,4,5-trisphosphate receptor type 3

Information
Symbol
ITPR3
Type
protein-coding
Description
inositol 1,4,5-trisphosphate receptor type 3
Entrez Gene ID
3710
Genome
hg19
Position
chr6:33,588,142-33,664,351
Genome
hg38
Position
chr6:33,620,365-33,696,574
MIM
147267 OMIM
HGNC
HGNC:6182 HGNC
Ensembl
ENSG00000096433 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 304
Likely benign 0 146
Conflicting classifications of pathogenicity 0 6
not provided 86 0
Uncertain significance 0 328
Ranking
ClinVar
0
0
102
650
4
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 CMT1J
SYNONYM IP3R
SYNONYM IP3R3
MIM 147267 OMIM
HGNC HGNC:6182 HGNC
Ensembl ENSG00000096433 Ensembl
AllianceGenome HGNC:6182
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374316.9 hg38 chr6 33,620,365 33,696,574 76,210
ENST00000605930.3 hg38 chr6 33,621,322 33,696,562 75,241
ENST00000374316.9 hg19 chr6 33,588,142 33,664,351 76,210
ENST00000605930.3 hg19 chr6 33,589,099 33,664,339 75,241
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