TFPI tissue factor pathway inhibitor
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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20 |
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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
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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 | |||||||||||
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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 | EPI |
| SYNONYM | LACI |
| SYNONYM | TFI |
| SYNONYM | TFPI1 |
| MIM | 152310 OMIM |
| HGNC | HGNC:11760 HGNC |
| Ensembl | ENSG00000003436 Ensembl |
| AllianceGenome | HGNC:11760 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000233156.9 | hg38 | chr2 | 187,464,230 | 187,554,435 | 90,206 |
| ENST00000409676.5 | hg38 | chr2 | 187,478,578 | 187,554,431 | 75,854 |
| ENST00000392365.5 | hg38 | chr2 | 187,464,230 | 187,513,641 | 49,412 |
| ENST00000339091.8 | hg38 | chr2 | 187,478,585 | 187,554,438 | 75,854 |
| ENST00000392365.5 | hg19 | chr2 | 188,328,957 | 188,378,368 | 49,412 |
| ENST00000233156.9 | hg19 | chr2 | 188,328,957 | 188,419,162 | 90,206 |
| ENST00000409676.5 | hg19 | chr2 | 188,343,305 | 188,419,158 | 75,854 |
| ENST00000339091.8 | hg19 | chr2 | 188,343,312 | 188,419,165 | 75,854 |
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