SEPT5-GP1BB SEPT5-GP1BB readthrough

Information
Symbol
SEPT5-GP1BB
Type
ncRNA
Description
SEPT5-GP1BB readthrough
Entrez Gene ID
100526833
Genome
hg19
Position
chr22:19,704,743-19,711,739
Genome
hg38
Position
chr22:19,717,220-19,724,216
Ensembl
ENSG00000284874 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 30
Benign 0 4
Likely benign 0 36
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 66
Ranking
ClinVar
0
0
12
122
16
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 GP1BB
SYNONYM GPIb-beta
SYNONYM GPIbB
Ensembl ENSG00000284874 Ensembl
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000455843.5 hg38 chr22 19,717,220 19,724,216 6,997
ENST00000455843.5 hg19 chr22 19,704,743 19,711,739 6,997
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