EGR3 early growth response 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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32 |
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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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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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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 | EGR-3 |
SYNONYM | PILOT |
MIM | 602419 OMIM |
HGNC | HGNC:3240 HGNC |
Ensembl | ENSG00000179388 Ensembl |
AllianceGenome | HGNC:3240 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000519492.1 | hg38 | chr8 | 22,690,424 | 22,693,178 | 2,755 |
ENST00000317216.3 | hg38 | chr8 | 22,687,659 | 22,693,480 | 5,822 |
ENST00000522910.1 | hg38 | chr8 | 22,690,043 | 22,692,414 | 2,372 |
ENST00000317216.3 | hg19 | chr8 | 22,545,172 | 22,550,993 | 5,822 |
ENST00000522910.1 | hg19 | chr8 | 22,547,556 | 22,549,927 | 2,372 |
ENST00000519492.1 | hg19 | chr8 | 22,547,937 | 22,550,691 | 2,755 |
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