DEAF1 DEAF1 transcription factor
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 88 |
Likely pathogenic | 0 | 84 |
Benign | 0 | 72 |
Likely benign | 0 | 578 |
Conflicting classifications of pathogenicity | 0 | 58 |
Uncertain significance | 0 | 748 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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230 |
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1,278 |
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24 |
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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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 | MRD24 |
SYNONYM | NEDHELS |
SYNONYM | NUDR |
SYNONYM | SPN |
SYNONYM | VSVS |
SYNONYM | ZMYND5 |
MIM | 602635 OMIM |
HGNC | HGNC:14677 HGNC |
Ensembl | ENSG00000177030 Ensembl |
AllianceGenome | HGNC:14677 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000685854.1 | hg38 | chr11 | 644,234 | 695,041 | 50,808 |
ENST00000689835.1 | hg38 | chr11 | 648,412 | 695,041 | 46,630 |
ENST00000690068.1 | hg38 | chr11 | 644,247 | 695,041 | 50,795 |
ENST00000686001.1 | hg38 | chr11 | 644,295 | 695,041 | 50,747 |
ENST00000683307.1 | hg38 | chr11 | 644,239 | 707,118 | 62,880 |
ENST00000382409.4 | hg38 | chr11 | 644,233 | 695,222 | 50,990 |
ENST00000382409.4 | hg19 | chr11 | 644,233 | 695,222 | 50,990 |
ENST00000683307.1 | hg19 | chr11 | 644,239 | 707,118 | 62,880 |
ENST00000685854.1 | hg19 | chr11 | 644,234 | 695,041 | 50,808 |
ENST00000686001.1 | hg19 | chr11 | 644,295 | 695,041 | 50,747 |
ENST00000689835.1 | hg19 | chr11 | 648,412 | 695,041 | 46,630 |
ENST00000690068.1 | hg19 | chr11 | 644,247 | 695,041 | 50,795 |
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