SH3BP1 SH3 domain binding protein 1

Information
Symbol
SH3BP1
Type
protein-coding
Description
SH3 domain binding protein 1
Entrez Gene ID
23616
Genome
hg19
Position
chr22:38,035,676-38,052,124
Genome
hg38
Position
chr22:37,639,669-37,656,117
MIM
617368 OMIM
HGNC
HGNC:10824 HGNC
Ensembl
ENSG00000100092 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
104
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 :
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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 ARHGAP43
MIM 617368 OMIM
HGNC HGNC:10824 HGNC
Ensembl ENSG00000100092 Ensembl
AllianceGenome HGNC:10824
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000649765.2 hg38 chr22 37,639,669 37,656,117 16,449
ENST00000649765.2 hg19 chr22 38,035,676 38,052,124 16,449
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