CACNB1 calcium voltage-gated channel auxiliary subunit beta 1

Information
Symbol
CACNB1
Type
protein-coding
Description
calcium voltage-gated channel auxiliary subunit beta 1
Entrez Gene ID
782
Genome
hg19
Position
chr17:37,329,706-37,353,922
Genome
hg38
Position
chr17:39,173,453-39,197,669
MIM
114207 OMIM
HGNC
HGNC:1401 HGNC
Ensembl
ENSG00000067191 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 10
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
62
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 :
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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 CAB1
SYNONYM CACNLB1
SYNONYM CCHLB1
MIM 114207 OMIM
HGNC HGNC:1401 HGNC
Ensembl ENSG00000067191 Ensembl
AllianceGenome HGNC:1401
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000394310.7 hg38 chr17 39,177,136 39,197,702 20,567
ENST00000394303.8 hg38 chr17 39,173,453 39,197,669 24,217
ENST00000344140.6 hg38 chr17 39,177,136 39,197,669 20,534
ENST00000394303.8 hg19 chr17 37,329,706 37,353,922 24,217
ENST00000344140.6 hg19 chr17 37,333,389 37,353,922 20,534
ENST00000394310.7 hg19 chr17 37,333,389 37,353,955 20,567
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