ITGB1BP2 integrin subunit beta 1 binding protein 2

Information
Symbol
ITGB1BP2
Type
protein-coding
Description
integrin subunit beta 1 binding protein 2
Entrez Gene ID
26548
Genome
hg19
Position
chrX:70,521,600-70,525,221
Genome
hg38
Position
chrX:71,301,750-71,305,371
MIM
300332 OMIM
HGNC
HGNC:6154 HGNC
Ensembl
ENSG00000147166 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
not provided 6 0
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
40
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 CHORDC3
SYNONYM ITGB1BP
SYNONYM MELUSIN
SYNONYM MSTP015
MIM 300332 OMIM
HGNC HGNC:6154 HGNC
Ensembl ENSG00000147166 Ensembl
AllianceGenome HGNC:6154
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000538820.1 hg38 chrX 71,301,787 71,305,301 3,515
ENST00000373829.8 hg38 chrX 71,301,750 71,305,371 3,622
ENST00000373829.8 hg19 chrX 70,521,600 70,525,221 3,622
ENST00000538820.1 hg19 chrX 70,521,637 70,525,151 3,515
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