BHLHA15 basic helix-loop-helix family member a15

Information
Symbol
BHLHA15
Type
protein-coding
Description
basic helix-loop-helix family member a15
Entrez Gene ID
168620
Genome
hg19
Position
chr7:97,840,751-97,844,769
Genome
hg38
Position
chr7:98,211,439-98,215,457
MIM
608606 OMIM
HGNC
HGNC:22265 HGNC
Ensembl
ENSG00000180535 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
32
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
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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 :
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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 :
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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 BHLHB8
SYNONYM MIST1
MIM 608606 OMIM
HGNC HGNC:22265 HGNC
Ensembl ENSG00000180535 Ensembl
AllianceGenome HGNC:22265
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000609256.2 hg38 chr7 98,211,439 98,215,457 4,019
ENST00000314018.2 hg38 chr7 98,212,254 98,212,959 706
ENST00000609256.2 hg19 chr7 97,840,751 97,844,769 4,019
ENST00000314018.2 hg19 chr7 97,841,566 97,842,271 706
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