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Case ID: 589 | ||||
|---|---|---|---|---|
| FXI:C% | 28 | |||
| FXI:Ag% | 27 | |||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Mild | |||
| Comments on Case | "Mild" defined as mildly affected or asymptomatic | |||
| Functional Analysis | Yes | |||
| Analysis Type | Thrombin generation tests | |||
| Reference | Rugeri et al 2010 | |||
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 | ||||||||||||||||||
| 42 | 2 | 3.58E-5 | TBA | Secretion defect with dominant negative dimerisation effect suggested | Heterozygous | Point | Missense | Exon 3 | c.127G>A | LRG_583:g.10717G>A | 10717G>A | NG_008051.1:g.10717G>A | GCC ACC | 43 | 25 | p.(Ala43Thr) | Apple 1 | ||
| 402 | 1 | 0.0001592 | TBA | Heterozygous | Point | Missense | Exon 15 | c.1858G>C | LRG_583:g.27631G>C | 27631G>C | NG_008051.1:g.27631G>C | GAG CAG | 620 | 602 | p.(Glu620Gln) | Serine Protease | |||