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Case ID: 579 | ||||
|---|---|---|---|---|
| FXI:C% | 23 | |||
| FXI:Ag% | 37 | |||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Severe | |||
| Comments on Case | "Severe" defined as injury-related excessive bleeding during surgery or haemorrhage requiring treatment or emergency hospital admission | |||
| 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 | ||||||||||||||||||
| 275 | 1 | TBA | Heterozygous | Point | Missense | Exon 11 | c.1214T>A | LRG_583:g.23207T>A | 23207T>A | NG_008051.1:g.23207T>A | CTG CAG | 405 | 387 | p.(Leu405Gln) | Serine Protease | ||||