|
Case ID: 76 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | <1 | |||
| FX:C% (intrinsic) | 30 | |||
| FX:C% (RVV) | 18 | |||
| FX:C% (unknown method) | ||||
| FX:Ag% | 20 | |||
| Reported Bleeding Severity | Mild | |||
| Case Gender | Female | |||
| Comments on Case | Mild bruising since childhood; no postoperative bleeding | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Forberg et al 2000 | |||
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 | Type | Effect | Location in gene | Variant (cDNA) | Sequence Context | Amino Acid No | Protein Change | Protein Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | ||||||||||||||
| 30 | 14 | TBA | FX Vorarlberg; FX Vienna 2; WT AA 54 gamma-carboxylation (Gla) is functionally important; purified protein has full activity in intrinsic activation, only 15% in extrinsic; decreased affinity for Ca2+ | Homozygous | Point | Missense | Exon 2 | c.160G>A | GAA AAA | 54 | 14 | p.(Glu54Lys) | Gla | ||
| 63 | 11 | 0.004489 | TBA | FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) | Homozygous | Point | Missense | Exon 5 | c.424G>A | GAG AAG | 142 | 102 | p.(Glu142Lys) | EGF2 | |