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Case ID: 684 | ||||
|---|---|---|---|---|
| FXI:C% | 11 | |||
| FXI:Ag% | ||||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | Mild | |||
| Comments on Case | Case 684: recurrent spontaneous epistaxis | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Kim et al 2013 | |||
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 | ||||||||||||||||||
| 162 | 9 | 1.19E-5 | TBA | Heterozygous | Maternal | Point | Nonsense | Exon 7 | c.730C>T | LRG_583:g.15402C>T | 15402C>T | NG_008051.1:g.15402C>T | CAG TAG | 244 | 226 | p.(Gln244*) | Apple 3 | ||
| 309 | 3 | TBA | Heterozygous | Paternal | Point | Missense | Exon 12 | c.1326G>C | LRG_583:g.24696G>C | 24696G>C | NG_008051.1:g.24696G>C | TTG TTC | 442 | 424 | p.(Leu442Phe) | Serine Protease | |||