|
Case ID: 870 | ||||
|---|---|---|---|---|
| FXI:C% | <1 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Asymptomatic | |||
| Comments on Case | ||||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Shao et al 2016 | |||
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 | ||||||||||||||||||
| 95 | 3 | 8.0E-6 | TBA | No secreted variant rFXI protein | Heterozygous | Point | Missense | Exon 5 | c.359T>C | LRG_583:g.13186T>C | 13186T>C | NG_008051.1:g.13186T>C | ATG ACG | 120 | 102 | p.(Met120Thr) | Apple 2 | ||
| 308 | 11 | 4.95E-5 | TBA | Heterozygous | Deletion | Frameshift | Exon 12 | c.1325delT | LRG_583:g.24695del | 24695del | NG_008051.1:g.24695del | 442 | 424 | p.(Leu442Cysfs*8) | Serine Protease | ||||