ATOH1 atonal bHLH transcription factor 1

Information
Symbol
ATOH1
Type
protein-coding
Description
atonal bHLH transcription factor 1
Entrez Gene ID
474
Genome
hg19
Position
chr4:94,749,904-94,752,115
Genome
hg38
Position
chr4:93,828,753-93,830,964
MIM
601461 OMIM
HGNC
HGNC:797 HGNC
Ensembl
ENSG00000172238 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 10
Likely benign 0 6
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
8
72
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 :
Filtering :
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 ATH1
SYNONYM DFNA89
SYNONYM HATH1
SYNONYM MATH-1
SYNONYM bHLHa14
MIM 601461 OMIM
HGNC HGNC:797 HGNC
Ensembl ENSG00000172238 Ensembl
AllianceGenome HGNC:797
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000306011.6 hg38 chr4 93,828,753 93,830,964 2,212
ENST00000306011.6 hg19 chr4 94,749,904 94,752,115 2,212
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