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Case ID: 94 | ||||
|---|---|---|---|---|
| FXI:C% | 48 | |||
| FXI:Ag% | 39 | |||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Mild | |||
| Comments on Case | Menorrhagia: facial bruising and epistaxis after dental treatment | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Mitchell et al 1999 | |||
The details of the variants found in this case are listed below
| Variant ID | No. of Cases | Minor Allele Frequency | Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
Comments on individual Variant | Genotype of Variant | Heterozygous Allele | Common Variant Alleles (Legacy) | Type | Effect | Location in gene | Variant (cDNA) | Variant (LRG) | Variant (Genomic) | Variant (Genomic HGVS) | Codon Change | Amino Acid No | Protein Change | Protein Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | ||||||||||||||||||
| 298 | 3 | TBA | Ala430 adjacent to active site triad His431 | Heterozygous | Point | Missense | Exon 11 | c.1289C>T | LRG_583:g.23282C>T | 23282C>T | NG_008051.1:g.23282C>T | GCT GTT | 430 | 412 | p.(Ala430Val) | Serine Protease | |||