TBXA2R thromboxane A2 receptor
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 0 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 52 |
| Likely benign | 0 | 88 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| risk factor | 0 | 4 |
| Uncertain significance | 0 | 132 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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34 |
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240 |
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6 |
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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| 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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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 | BDPLT13 |
| SYNONYM | TXA2-R |
| MIM | 188070 OMIM |
| HGNC | HGNC:11608 HGNC |
| Ensembl | ENSG00000006638 Ensembl |
| AllianceGenome | HGNC:11608 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000589966.1 | hg38 | chr19 | 3,594,552 | 3,600,669 | 6,118 |
| ENST00000375190.10 | hg38 | chr19 | 3,594,507 | 3,606,875 | 12,369 |
| ENST00000411851.3 | hg38 | chr19 | 3,594,780 | 3,606,660 | 11,881 |
| ENST00000375190.10 | hg19 | chr19 | 3,594,505 | 3,606,873 | 12,369 |
| ENST00000589966.1 | hg19 | chr19 | 3,594,550 | 3,600,667 | 6,118 |
| ENST00000411851.3 | hg19 | chr19 | 3,594,778 | 3,606,658 | 11,881 |
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