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Case ID: 513 | ||||
|---|---|---|---|---|
| FXI:C% | <1 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Mild | |||
| Comments on Case | Sister of case 514: postoperative bleeding | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Quelin et al 2009 | |||
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 | ||||||||||||||||||
| 99 | 158 | 0.0008631 | TBA | "Type II" Ashkenazi Jewish variant | Heterozygous | Point | Nonsense | Exon 5 | c.403G>T | LRG_583:g.13230G>T | 13230G>T | NG_008051.1:g.13230G>T | GAA TAA | 135 | 117 | p.(Glu135*) | Apple 2 | ||
| 153 | 4 | TBA | Abolition of Apple 3 disulphide link Cys230-Cys236 | Heterozygous | Point | Missense | Exon 7 | c.688T>A | LRG_583:g.15360T>A | 15360T>A | NG_008051.1:g.15360T>A | TGC AGC | 230 | 212 | p.(Cys230Ser) | Apple 3 | |||