BHLHE40 basic helix-loop-helix family member e40

Information
Symbol
BHLHE40
Type
protein-coding
Description
basic helix-loop-helix family member e40
Entrez Gene ID
8553
Genome
hg19
Position
chr3:5,021,122-5,027,008
Genome
hg38
Position
chr3:4,979,437-4,985,323
MIM
604256 OMIM
HGNC
HGNC:1046 HGNC
Ensembl
ENSG00000134107 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
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 :
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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 BHLHB2
SYNONYM Clast5
SYNONYM DEC1
SYNONYM HLHB2
SYNONYM SHARP-2
SYNONYM SHARP2
SYNONYM STRA13
SYNONYM Stra14
MIM 604256 OMIM
HGNC HGNC:1046 HGNC
Ensembl ENSG00000134107 Ensembl
AllianceGenome HGNC:1046
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000256495.4 hg38 chr3 4,979,437 4,985,323 5,887
ENST00000256495.4 hg19 chr3 5,021,122 5,027,008 5,887
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