CABP1 calcium binding protein 1

Information
Symbol
CABP1
Type
protein-coding
Description
calcium binding protein 1
Entrez Gene ID
9478
Genome
hg19
Position
chr12:121,078,429-121,105,127
Genome
hg38
Position
chr12:120,640,626-120,667,324
MIM
605563 OMIM
HGNC
HGNC:1384 HGNC
Ensembl
ENSG00000157782 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
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 :
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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 CALBRAIN
SYNONYM HCALB_BR
MIM 605563 OMIM
HGNC HGNC:1384 HGNC
Ensembl ENSG00000157782 Ensembl
AllianceGenome HGNC:1384
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000288616.7 hg38 chr12 120,650,085 120,667,032 16,948
ENST00000453000.1 hg38 chr12 120,655,299 120,667,324 12,026
ENST00000316803.8 hg38 chr12 120,640,626 120,667,324 26,699
ENST00000351200.6 hg38 chr12 120,650,507 120,667,035 16,529
ENST00000316803.8 hg19 chr12 121,078,429 121,105,127 26,699
ENST00000288616.7 hg19 chr12 121,087,888 121,104,835 16,948
ENST00000351200.6 hg19 chr12 121,088,310 121,104,838 16,529
ENST00000453000.1 hg19 chr12 121,093,102 121,105,127 12,026
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