HIP1R huntingtin interacting protein 1 related

Information
Symbol
HIP1R
Type
protein-coding
Description
huntingtin interacting protein 1 related
Entrez Gene ID
9026
Genome
hg19
Position
chr12:123,320,004-123,347,508
Genome
hg38
Position
chr12:122,835,457-122,862,961
MIM
605613 OMIM
HGNC
HGNC:18415 HGNC
Ensembl
ENSG00000130787 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 18
Uncertain significance 0 148
Ranking
ClinVar
0
0
0
172
0
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 HIP12
SYNONYM HIP3
SYNONYM ILWEQ
MIM 605613 OMIM
HGNC HGNC:18415 HGNC
Ensembl ENSG00000130787 Ensembl
AllianceGenome HGNC:18415
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000253083.9 hg38 chr12 122,835,457 122,862,961 27,505
ENST00000253083.9 hg19 chr12 123,320,004 123,347,508 27,505
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