EPS8L1 EPS8 signaling adaptor L1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 142 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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142 |
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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
Search Word
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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Target data | : |
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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | DRC3 |
SYNONYM | EPS8R1 |
SYNONYM | PP10566 |
MIM | 614987 OMIM |
HGNC | HGNC:21295 HGNC |
Ensembl | ENSG00000131037 Ensembl |
AllianceGenome | HGNC:21295 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000245618.5 | hg38 | chr19 | 55,080,392 | 55,087,919 | 7,528 |
ENST00000540810.5 | hg38 | chr19 | 55,075,903 | 55,087,848 | 11,946 |
ENST00000586329.5 | hg38 | chr19 | 55,072,020 | 55,087,919 | 15,900 |
ENST00000201647.11 | hg38 | chr19 | 55,075,869 | 55,087,923 | 12,055 |
ENST00000588359.5 | hg38 | chr19 | 55,080,392 | 55,087,689 | 7,298 |
ENST00000201647.11 | hg19 | chr19 | 55,587,237 | 55,599,291 | 12,055 |
ENST00000540810.5 | hg19 | chr19 | 55,587,271 | 55,599,216 | 11,946 |
ENST00000588359.5 | hg19 | chr19 | 55,591,760 | 55,599,057 | 7,298 |
ENST00000245618.5 | hg19 | chr19 | 55,591,760 | 55,599,287 | 7,528 |
ENST00000586329.5 | hg19 | chr19 | 55,583,388 | 55,599,287 | 15,900 |
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