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Case ID: 478 | ||||
|---|---|---|---|---|
| FXI:C% | 46 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Not Reported | |||
| Comments on Case | ||||
| 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 | ||||||||||||||||||
| 333 | 7 | TBA | Recombinant variant poorly expressed: variant abolishes N-linked glycosylation site known to be utilised in vivo; however requirement appears to be for Thr (or Ser) but not for glycosylation | Heterozygous | Point | Missense | Exon 12 | c.1478C>T | LRG_583:g.24848C>T | 24848C>T | NG_008051.1:g.24848C>T | ACA ATA | 493 | 475 | p.(Thr493Ile) | Serine Protease | |||