BSPRY B-box and SPRY domain containing

Information
Symbol
BSPRY
Type
protein-coding
Description
B-box and SPRY domain containing
Entrez Gene ID
54836
Genome
hg19
Position
chr9:116,111,821-116,133,502
Genome
hg38
Position
chr9:113,349,541-113,371,222
MIM
619683 OMIM
HGNC
HGNC:18232 HGNC
Ensembl
ENSG00000119411 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 1 0
Likely benign 0 2
Uncertain significance 0 78
Ranking
ClinVar
0
0
0
80
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
MIM 619683 OMIM
HGNC HGNC:18232 HGNC
Ensembl ENSG00000119411 Ensembl
AllianceGenome HGNC:18232
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374183.5 hg38 chr9 113,349,541 113,371,222 21,682
ENST00000374183.5 hg19 chr9 116,111,821 116,133,502 21,682
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