CABP4 calcium binding protein 4

Information
Symbol
CABP4
Type
protein-coding
Description
calcium binding protein 4
Entrez Gene ID
57010
Genome
hg19
Position
chr11:67,222,825-67,229,223
Genome
hg38
Position
chr11:67,455,354-67,461,752
MIM
608965 OMIM
HGNC
HGNC:1386 HGNC
Ensembl
ENSG00000175544 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 12
Benign 0 64
Likely benign 0 174
Conflicting classifications of pathogenicity 0 58
not provided 2 0
Uncertain significance 0 422
Ranking
ClinVar
0
0
62
634
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 :
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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 CRSD
SYNONYM CSNB2B
MIM 608965 OMIM
HGNC HGNC:1386 HGNC
Ensembl ENSG00000175544 Ensembl
AllianceGenome HGNC:1386
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000438189.6 hg38 chr11 67,452,415 67,459,228 6,814
ENST00000325656.7 hg38 chr11 67,455,354 67,461,752 6,399
ENST00000438189.6 hg19 chr11 67,219,886 67,226,699 6,814
ENST00000325656.7 hg19 chr11 67,222,825 67,229,223 6,399
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