STXBP4 syntaxin binding protein 4

Information
Symbol
STXBP4
Type
protein-coding
Description
syntaxin binding protein 4
Entrez Gene ID
252983
Genome
hg19
Position
chr17:53,046,126-53,250,993
Genome
hg38
Position
chr17:54,968,765-55,173,632
MIM
610415 OMIM
HGNC
HGNC:19694 HGNC
Ensembl
ENSG00000166263 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
52
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 Synip
MIM 610415 OMIM
HGNC HGNC:19694 HGNC
Ensembl ENSG00000166263 Ensembl
AllianceGenome HGNC:19694
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000398391.6 hg38 chr17 54,968,795 55,044,776 75,982
ENST00000434978.6 hg38 chr17 54,968,776 55,160,926 192,151
ENST00000376352.6 hg38 chr17 54,968,765 55,173,632 204,868
ENST00000405898.5 hg38 chr17 54,968,775 55,044,776 76,002
ENST00000376352.6 hg19 chr17 53,046,126 53,250,993 204,868
ENST00000405898.5 hg19 chr17 53,046,136 53,122,137 76,002
ENST00000434978.6 hg19 chr17 53,046,137 53,238,287 192,151
ENST00000398391.6 hg19 chr17 53,046,156 53,122,137 75,982
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