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Case ID: 468 | ||||
|---|---|---|---|---|
| FXI:C% | <2 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Not Reported | |||
| Comments on Case | Previous unspecified bleeding history | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Duncan et al 2008 | |||
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 | ||||||||||||||||||
| 296 | 8 | 7.08E-5 | TBA | Homozygous | 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 | |||