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Case ID: 449 | ||||
|---|---|---|---|---|
| FXI:C% | 2 | |||
| FXI:Ag% | 2 | |||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Moderate | |||
| Comments on Case | Case 449: spontaneous epistaxis and menorrhagia: postpartum and post-surgical bleeding | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Castaman et al 2008B | |||
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 | ||||||||||||||||||
| 195 | 90 | 0.0010501 | TBA | "Type III" Ashkenazi Jewish variant: recombinant expression suggests reduced expression due to defect in dimerisation but still active in coagulation | Heterozygous | Point | Missense | Exon 9 | c.901T>C | LRG_583:g.19295T>C | 19295T>C | NG_008051.1:g.19295T>C | TTC CTC | 301 | 283 | p.(Phe301Leu) | Apple 4 | ||
| 296 | 8 | 7.08E-5 | TBA | Heterozygous | Point | Missense | Exon 11 | c.1288G>A | LRG_583:g.23281G>A | 23281G>A | NG_008051.1:g.23281G>A | GCT ACT | 430 | 412 | p.(Ala430Thr) | Serine Protease | |||