EVI2A ecotropic viral integration site 2A
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 8 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 4 | 0 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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8 |
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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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | EVDA |
| SYNONYM | EVI-2A |
| SYNONYM | EVI2 |
| MIM | 158380 OMIM |
| HGNC | HGNC:3499 HGNC |
| Ensembl | ENSG00000126860 Ensembl |
| AllianceGenome | HGNC:3499 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000247270.3 | hg38 | chr17 | 31,317,560 | 31,321,749 | 4,190 |
| ENST00000461237.5 | hg38 | chr17 | 31,317,560 | 31,321,032 | 3,473 |
| ENST00000462804.3 | hg38 | chr17 | 31,316,410 | 31,321,622 | 5,213 |
| ENST00000462804.3 | hg19 | chr17 | 29,643,428 | 29,648,640 | 5,213 |
| ENST00000461237.5 | hg19 | chr17 | 29,644,578 | 29,648,050 | 3,473 |
| ENST00000247270.3 | hg19 | chr17 | 29,644,578 | 29,648,767 | 4,190 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | OG |
| start | 29,643,427 |
| Gene Symbol | EVI2A |
| Entrez GeneId | 2,123 |
| Chr Band | 17q11.2 |
| end | 29,648,766 |
| chr | chr17 |
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