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Case ID: 632 | ||||
|---|---|---|---|---|
| FXI:C% | 50 | |||
| FXI:Ag% | 56 | |||
| Reported Bleeding Severity (based on clinical description, not FXI:C assay) | See case comments | |||
| Comments on Case | "Bleeder": publication divides cases in "Bleeder" and "Nonbleeder" | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Gueguen et al 2012B | |||
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 | ||||||||||||||||||
| 152 | 1 | 2.83E-5 | TBA | Heterozygous | Point | Missense | Exon 7 | c.683G>A | LRG_583:g.15355G>A | 15355G>A | NG_008051.1:g.15355G>A | CGA CAA | 228 | 210 | p.(Arg228Gln) | Apple 3 | |||