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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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
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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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