TREX1 three prime repair exonuclease 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 10 | 88 |
| Likely pathogenic | 2 | 56 |
| Benign | 0 | 18 |
| Likely benign | 0 | 252 |
| Conflicting classifications of pathogenicity | 0 | 48 |
| not provided | 0 | 6 |
| Uncertain significance | 0 | 562 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
132 |
 |
818 |
 |
10 |
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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| Category | : |
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| Search word | : | |
| Filtering | : |
| 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 | AGS1 |
| SYNONYM | CRV |
| SYNONYM | DRN3 |
| SYNONYM | HERNS |
| SYNONYM | RVCLS |
| MIM | 606609 OMIM |
| HGNC | HGNC:12269 HGNC |
| Ensembl | ENSG00000213689 Ensembl |
| AllianceGenome | HGNC:12269 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000492235.2 | hg38 | chr3 | 48,466,252 | 48,467,643 | 1,392 |
| ENST00000635452.2 | hg38 | chr3 | 48,466,257 | 48,467,644 | 1,388 |
| ENST00000456089.1 | hg38 | chr3 | 48,466,262 | 48,467,645 | 1,384 |
| ENST00000625293.3 | hg38 | chr3 | 48,466,230 | 48,467,645 | 1,416 |
| ENST00000433541.1 | hg38 | chr3 | 48,465,811 | 48,467,645 | 1,835 |
| ENST00000444177.1 | hg38 | chr3 | 48,465,946 | 48,467,643 | 1,698 |
| ENST00000433541.1 | hg19 | chr3 | 48,507,210 | 48,509,044 | 1,835 |
| ENST00000444177.1 | hg19 | chr3 | 48,507,345 | 48,509,042 | 1,698 |
| ENST00000625293.3 | hg19 | chr3 | 48,507,629 | 48,509,044 | 1,416 |
| ENST00000492235.2 | hg19 | chr3 | 48,507,651 | 48,509,042 | 1,392 |
| ENST00000635452.2 | hg19 | chr3 | 48,507,656 | 48,509,043 | 1,388 |
| ENST00000456089.1 | hg19 | chr3 | 48,507,661 | 48,509,044 | 1,384 |
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