SBK2 SH3 domain binding kinase family member 2

Information
Symbol
SBK2
Type
protein-coding
Description
SH3 domain binding kinase family member 2
Entrez Gene ID
646643
Genome
hg19
Position
chr19:56,039,978-56,048,500
Genome
hg38
Position
chr19:55,528,611-55,537,133
MIM
620414 OMIM
HGNC
HGNC:34416 HGNC
Ensembl
ENSG00000187550 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
60
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 :
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 SGK069
MIM 620414 OMIM
HGNC HGNC:34416 HGNC
Ensembl ENSG00000187550 Ensembl
AllianceGenome HGNC:34416
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000344158.4 hg38 chr19 55,529,733 55,536,303 6,571
ENST00000413299.6 hg38 chr19 55,528,611 55,537,133 8,523
ENST00000413299.6 hg19 chr19 56,039,978 56,048,500 8,523
ENST00000344158.4 hg19 chr19 56,041,100 56,047,670 6,571
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