CABP2 calcium binding protein 2

Information
Symbol
CABP2
Type
protein-coding
Description
calcium binding protein 2
Entrez Gene ID
51475
Genome
hg19
Position
chr11:67,286,383-67,290,917
Genome
hg38
Position
chr11:67,518,912-67,523,446
MIM
607314 OMIM
HGNC
HGNC:1385 HGNC
Ensembl
ENSG00000167791 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 10
Benign 0 22
Likely benign 0 68
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 86
Ranking
ClinVar
0
0
46
136
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
[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 DFNB93
MIM 607314 OMIM
HGNC HGNC:1385 HGNC
Ensembl ENSG00000167791 Ensembl
AllianceGenome HGNC:1385
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000353903.9 hg38 chr11 67,518,912 67,523,396 4,485
ENST00000294288.5 hg38 chr11 67,518,912 67,523,446 4,535
ENST00000636477.1 hg38 chr11 67,518,954 67,524,517 5,564
ENST00000353903.9 hg19 chr11 67,286,383 67,290,867 4,485
ENST00000294288.5 hg19 chr11 67,286,383 67,290,917 4,535
ENST00000636477.1 hg19 chr11 67,286,425 67,291,988 5,564
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