TOE1 target of EGR1, exonuclease
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 30 |
| Likely pathogenic | 0 | 48 |
| Benign | 0 | 32 |
| Likely benign | 0 | 192 |
| Conflicting classifications of pathogenicity | 0 | 24 |
| Uncertain significance | 4 | 280 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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146 |
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384 |
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26 |
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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | PCH7 |
| SYNONYM | TOE-1 |
| SYNONYM | hCaf1z |
| MIM | 613931 OMIM |
| HGNC | HGNC:15954 HGNC |
| Ensembl | ENSG00000132773 Ensembl |
| AllianceGenome | HGNC:15954 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000372090.6 | hg38 | chr1 | 45,340,170 | 45,343,973 | 3,804 |
| ENST00000372090.6 | hg19 | chr1 | 45,805,842 | 45,809,645 | 3,804 |
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