HES1 hes family bHLH transcription factor 1

Information
Symbol
HES1
Type
protein-coding
Description
hes family bHLH transcription factor 1
Entrez Gene ID
3280
Genome
hg19
Position
chr3:193,853,937-193,856,521
Genome
hg38
Position
chr3:194,136,148-194,138,732
MIM
139605 OMIM
HGNC
HGNC:5192 HGNC
Ensembl
ENSG00000114315 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
24
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 :
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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 HES-1
SYNONYM HHL
SYNONYM HRY
SYNONYM bHLHb39
MIM 139605 OMIM
HGNC HGNC:5192 HGNC
Ensembl ENSG00000114315 Ensembl
AllianceGenome HGNC:5192
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000232424.4 hg38 chr3 194,136,148 194,138,732 2,585
ENST00000232424.4 hg19 chr3 193,853,937 193,856,521 2,585
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