F9 coagulation factor IX
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 340 |
Likely pathogenic | 0 | 154 |
Benign | 0 | 80 |
Likely benign | 0 | 358 |
Benign; association | 0 | 2 |
Conflicting classifications of pathogenicity | 0 | 16 |
not provided | 6 | 0 |
Uncertain significance | 0 | 126 |
Ranking
ClinVar | |
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0 |
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36 |
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96 |
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754 |
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140 |
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
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | F9 p22 |
SYNONYM | FIX |
SYNONYM | HEMB |
SYNONYM | P19 |
SYNONYM | PTC |
SYNONYM | THPH8 |
MIM | 300746 OMIM |
HGNC | HGNC:3551 HGNC |
Ensembl | ENSG00000101981 Ensembl |
AllianceGenome | HGNC:3551 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000218099.7 | hg38 | chrX | 139,530,739 | 139,563,459 | 32,721 |
ENST00000394090.2 | hg38 | chrX | 139,530,765 | 139,562,071 | 31,307 |
ENST00000218099.7 | hg19 | chrX | 138,612,898 | 138,645,618 | 32,721 |
ENST00000394090.2 | hg19 | chrX | 138,612,924 | 138,644,230 | 31,307 |
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