TIMP2 TIMP metallopeptidase inhibitor 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 20 |
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
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 | CSC-21K |
| SYNONYM | DDC8 |
| MIM | 188825 OMIM |
| HGNC | HGNC:11821 HGNC |
| Ensembl | ENSG00000035862 Ensembl |
| AllianceGenome | HGNC:11821 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000586713.6 | hg38 | chr17 | 78,855,568 | 78,903,215 | 47,648 |
| ENST00000262768.11 | hg38 | chr17 | 78,852,977 | 78,925,387 | 72,411 |
| ENST00000585421.5 | hg38 | chr17 | 78,852,977 | 78,874,150 | 21,174 |
| ENST00000536189.6 | hg38 | chr17 | 78,852,977 | 78,922,401 | 69,425 |
| ENST00000586057.5 | hg38 | chr17 | 78,852,981 | 78,874,089 | 21,109 |
| ENST00000585421.5 | hg19 | chr17 | 76,849,059 | 76,870,232 | 21,174 |
| ENST00000536189.6 | hg19 | chr17 | 76,849,059 | 76,918,483 | 69,425 |
| ENST00000262768.11 | hg19 | chr17 | 76,849,059 | 76,921,469 | 72,411 |
| ENST00000586057.5 | hg19 | chr17 | 76,849,063 | 76,870,171 | 21,109 |
| ENST00000586713.6 | hg19 | chr17 | 76,851,650 | 76,899,297 | 47,648 |
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