S100B S100 calcium binding protein B

Information
Symbol
S100B
Type
protein-coding
Description
S100 calcium binding protein B
Entrez Gene ID
6285
Genome
hg19
Position
chr21:48,018,517-48,024,995
Genome
hg38
Position
chr21:46,598,604-46,605,082
MIM
176990 OMIM
HGNC
HGNC:10500 HGNC
Ensembl
ENSG00000160307 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
not provided 1 0
Uncertain significance 0 8
Ranking
ClinVar
0
0
0
8
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 :
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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 NEF
SYNONYM S100
SYNONYM S100-B
SYNONYM S100beta
MIM 176990 OMIM
HGNC HGNC:10500 HGNC
Ensembl ENSG00000160307 Ensembl
AllianceGenome HGNC:10500
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397648.1 hg38 chr21 46,599,281 46,602,893 3,613
ENST00000367071.4 hg38 chr21 46,598,962 46,605,208 6,247
ENST00000291700.9 hg38 chr21 46,598,604 46,605,082 6,479
ENST00000291700.9 hg19 chr21 48,018,517 48,024,995 6,479
ENST00000367071.4 hg19 chr21 48,018,875 48,025,121 6,247
ENST00000397648.1 hg19 chr21 48,019,194 48,022,806 3,613
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