BHLHA9 basic helix-loop-helix family member a9

Information
Symbol
BHLHA9
Type
protein-coding
Description
basic helix-loop-helix family member a9
Entrez Gene ID
727857
Genome
hg19
Position
chr17:1,173,738-1,175,109
Genome
hg38
Position
chr17:1,270,444-1,271,815
MIM
615416 OMIM
HGNC
HGNC:35126 HGNC
Ensembl
ENSG00000205899 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 0 6
Likely benign 0 44
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 52
Ranking
ClinVar
0
0
14
92
4
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 BHLHF42
SYNONYM CCSPD
MIM 615416 OMIM
HGNC HGNC:35126 HGNC
Ensembl ENSG00000205899 Ensembl
AllianceGenome HGNC:35126
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000391429.2 hg38 chr17 1,270,444 1,271,815 1,372
ENST00000391429.2 hg19 chr17 1,173,738 1,175,109 1,372
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