F2R coagulation factor II thrombin receptor
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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36 |
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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
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| Target data | : |
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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 | CF2R |
| SYNONYM | HTR |
| SYNONYM | PAR-1 |
| SYNONYM | PAR1 |
| SYNONYM | TR |
| MIM | 187930 OMIM |
| HGNC | HGNC:3537 HGNC |
| Ensembl | ENSG00000181104 Ensembl |
| AllianceGenome | HGNC:3537 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000505600.1 | hg38 | chr5 | 76,716,199 | 76,716,788 | 590 |
| ENST00000319211.5 | hg38 | chr5 | 76,716,126 | 76,735,770 | 19,645 |
| ENST00000319211.5 | hg19 | chr5 | 76,011,951 | 76,031,595 | 19,645 |
| ENST00000505600.1 | hg19 | chr5 | 76,012,024 | 76,012,613 | 590 |
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