CIB1 calcium and integrin binding 1

Information
Symbol
CIB1
Type
protein-coding
Description
calcium and integrin binding 1
Entrez Gene ID
10519
Genome
hg19
Position
chr15:90,773,478-90,777,279
Genome
hg38
Position
chr15:90,230,246-90,234,047
MIM
602293 OMIM
HGNC
HGNC:16920 HGNC
Ensembl
ENSG00000185043 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 2
Benign 0 28
Likely benign 0 132
risk factor 0 8
Uncertain significance 0 138
Ranking
ClinVar
0
0
24
284
8
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 CIB
SYNONYM CIBP
SYNONYM EV3
SYNONYM KIP1
SYNONYM PRKDCIP
SYNONYM SIP2-28
MIM 602293 OMIM
HGNC HGNC:16920 HGNC
Ensembl ENSG00000185043 Ensembl
AllianceGenome HGNC:16920
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000650306.1 hg38 chr15 90,230,250 90,233,960 3,711
ENST00000328649.11 hg38 chr15 90,229,975 90,233,941 3,967
ENST00000612800.1 hg38 chr15 90,230,246 90,234,047 3,802
ENST00000328649.11 hg19 chr15 90,773,207 90,777,173 3,967
ENST00000612800.1 hg19 chr15 90,773,478 90,777,279 3,802
ENST00000650306.1 hg19 chr15 90,773,482 90,777,192 3,711
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