SH3BP5L SH3 binding domain protein 5 like

Information
Symbol
SH3BP5L
Type
protein-coding
Description
SH3 binding domain protein 5 like
Entrez Gene ID
80851
Genome
hg19
Position
chr1:249,104,645-249,120,114
Genome
hg38
Position
chr1:248,810,446-248,825,915
MIM
620652 OMIM
HGNC
HGNC:29360 HGNC
Ensembl
ENSG00000175137 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
38
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
MIM 620652 OMIM
HGNC HGNC:29360 HGNC
Ensembl ENSG00000175137 Ensembl
AllianceGenome HGNC:29360
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366472.6 hg38 chr1 248,810,446 248,825,915 15,470
ENST00000366472.6 hg19 chr1 249,104,645 249,120,114 15,470
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