CASC3 CASC3 exon junction complex subunit

Information
Symbol
CASC3
Type
protein-coding
Description
CASC3 exon junction complex subunit
Entrez Gene ID
22794
Genome
hg19
Position
chr17:38,296,790-38,328,424
Genome
hg38
Position
chr17:40,140,537-40,172,171
MIM
606504 OMIM
HGNC
HGNC:17040 HGNC
Ensembl
ENSG00000108349 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
70
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 :
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 BTZ
SYNONYM MLN51
MIM 606504 OMIM
HGNC HGNC:17040 HGNC
Ensembl ENSG00000108349 Ensembl
AllianceGenome HGNC:17040
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264645.12 hg38 chr17 40,140,537 40,172,171 31,635
ENST00000264645.12 hg19 chr17 38,296,790 38,328,424 31,635
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