SF3B3 splicing factor 3b subunit 3

Information
Symbol
SF3B3
Type
protein-coding
Description
splicing factor 3b subunit 3
Entrez Gene ID
23450
Genome
hg19
Position
chr16:70,557,719-70,611,571
Genome
hg38
Position
chr16:70,523,816-70,577,668
MIM
605592 OMIM
HGNC
HGNC:10770 HGNC
Ensembl
ENSG00000189091 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
50
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 :
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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 RSE1
SYNONYM SAP130
SYNONYM SF3b130
SYNONYM STAF130
MIM 605592 OMIM
HGNC HGNC:10770 HGNC
Ensembl ENSG00000189091 Ensembl
AllianceGenome HGNC:10770
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000302516.10 hg38 chr16 70,523,816 70,577,668 53,853
ENST00000302516.10 hg19 chr16 70,557,719 70,611,571 53,853
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