CACTIN cactin, spliceosome C complex subunit

Information
Symbol
CACTIN
Type
protein-coding
Description
cactin, spliceosome C complex subunit
Entrez Gene ID
58509
Genome
hg19
Position
chr19:3,610,643-3,626,788
Genome
hg38
Position
chr19:3,610,645-3,626,790
MIM
618536 OMIM
HGNC
HGNC:29938 HGNC
Ensembl
ENSG00000105298 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
56
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 C19orf29
SYNONYM NY-REN-24
SYNONYM fSAPc
MIM 618536 OMIM
HGNC HGNC:29938 HGNC
Ensembl ENSG00000105298 Ensembl
AllianceGenome HGNC:29938
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221899.7 hg38 chr19 3,610,660 3,626,815 16,156
ENST00000429344.7 hg38 chr19 3,610,645 3,626,790 16,146
ENST00000248420.9 hg38 chr19 3,610,650 3,626,815 16,166
ENST00000429344.7 hg19 chr19 3,610,643 3,626,788 16,146
ENST00000248420.9 hg19 chr19 3,610,648 3,626,813 16,166
ENST00000221899.7 hg19 chr19 3,610,658 3,626,813 16,156
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