EHF ETS homologous factor
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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34 |
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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
Locus Zoom
Variants
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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 | |||||
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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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Target data | : |
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 | ESE3 |
SYNONYM | ESE3B |
SYNONYM | ESEJ |
MIM | 605439 OMIM |
HGNC | HGNC:3246 HGNC |
Ensembl | ENSG00000135373 Ensembl |
AllianceGenome | HGNC:3246 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000531794.5 | hg38 | chr11 | 34,632,464 | 34,659,317 | 26,854 |
ENST00000527935.1 | hg38 | chr11 | 34,642,627 | 34,646,894 | 4,268 |
ENST00000530286.5 | hg38 | chr11 | 34,622,053 | 34,659,168 | 37,116 |
ENST00000533754.5 | hg38 | chr11 | 34,622,203 | 34,659,312 | 37,110 |
ENST00000531728.5 | hg38 | chr11 | 34,624,266 | 34,646,771 | 22,506 |
ENST00000257831.8 | hg38 | chr11 | 34,621,093 | 34,663,288 | 42,196 |
ENST00000450654.6 | hg38 | chr11 | 34,621,135 | 34,660,519 | 39,385 |
ENST00000257831.8 | hg19 | chr11 | 34,642,640 | 34,684,835 | 42,196 |
ENST00000450654.6 | hg19 | chr11 | 34,642,682 | 34,682,066 | 39,385 |
ENST00000530286.5 | hg19 | chr11 | 34,643,600 | 34,680,715 | 37,116 |
ENST00000533754.5 | hg19 | chr11 | 34,643,750 | 34,680,859 | 37,110 |
ENST00000531728.5 | hg19 | chr11 | 34,645,813 | 34,668,318 | 22,506 |
ENST00000531794.5 | hg19 | chr11 | 34,654,011 | 34,680,864 | 26,854 |
ENST00000527935.1 | hg19 | chr11 | 34,664,174 | 34,668,441 | 4,268 |
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