SRSF8 serine and arginine rich splicing factor 8

Information
Symbol
SRSF8
Type
protein-coding
Description
serine and arginine rich splicing factor 8
Entrez Gene ID
10929
Genome
hg19
Position
chr11:94,800,083-94,804,388
Genome
hg38
Position
chr11:95,066,919-95,071,225
MIM
603269 OMIM
HGNC
HGNC:16988 HGNC
Ensembl
ENSG00000263465 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 2 0
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
20
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
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 DSM-1
SYNONYM SFRS2B
SYNONYM SRP46
MIM 603269 OMIM
HGNC HGNC:16988 HGNC
Ensembl ENSG00000263465 Ensembl
AllianceGenome HGNC:16988
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000587424.3 hg38 chr11 95,066,919 95,071,225 4,307
ENST00000587424.3 hg19 chr11 94,800,083 94,804,388 4,306
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