HES4 hes family bHLH transcription factor 4
Clinical Significance
MGeND | ClinVar | |
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Uncertain significance | 0 | 56 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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56 |
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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
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | bHLHb42 |
MIM | 608060 OMIM |
HGNC | HGNC:24149 HGNC |
Ensembl | ENSG00000188290 Ensembl |
AllianceGenome | HGNC:24149 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000304952.11 | hg38 | chr1 | 998,964 | 1,000,097 | 1,134 |
ENST00000484667.2 | hg38 | chr1 | 998,970 | 999,981 | 1,012 |
ENST00000428771.6 | hg38 | chr1 | 998,962 | 1,000,172 | 1,211 |
ENST00000428771.6 | hg19 | chr1 | 934,342 | 935,552 | 1,211 |
ENST00000304952.11 | hg19 | chr1 | 934,344 | 935,477 | 1,134 |
ENST00000484667.2 | hg19 | chr1 | 934,350 | 935,361 | 1,012 |
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