SHKBP1 SH3KBP1 binding protein 1

Information
Symbol
SHKBP1
Type
protein-coding
Description
SH3KBP1 binding protein 1
Entrez Gene ID
92799
Genome
hg19
Position
chr19:41,082,779-41,097,303
Genome
hg38
Position
chr19:40,576,873-40,591,397
MIM
617322 OMIM
HGNC
HGNC:19214 HGNC
Ensembl
ENSG00000160410 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 3 0
Uncertain significance 0 88
Ranking
ClinVar
0
0
0
90
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 PP203
SYNONYM Sb1
MIM 617322 OMIM
HGNC HGNC:19214 HGNC
Ensembl ENSG00000160410 Ensembl
AllianceGenome HGNC:19214
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291842.10 hg38 chr19 40,576,873 40,591,397 14,525
ENST00000600733.5 hg38 chr19 40,576,855 40,591,397 14,543
ENST00000600733.5 hg19 chr19 41,082,761 41,097,303 14,543
ENST00000291842.10 hg19 chr19 41,082,779 41,097,303 14,525
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