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Case ID: 37 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | 20 | |||
| FX:C% (intrinsic) | 56 | |||
| FX:C% (RVV) | 54 | |||
| FX:C% (unknown method) | ||||
| FX:Ag% | 72 | |||
| Reported Bleeding Severity | Asymptomatic | |||
| Case Gender | Male | |||
| Comments on Case | Brother of case 38 | |||
| Functional Analysis | Yes | |||
| Analysis Type | molecular modelling | |||
| Reference | Marchetti et al 1995 | |||
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 | ||||||||||||||
| 63 | 11 | 0.004489 | TBA | FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) | Heterozygous | Point | Missense | Exon 5 | c.424G>A | GAG AAG | 142 | 102 | p.(Glu142Lys) | EGF2 | |
| 141 | 19 | TBA | FX Marsiglia (aka Marseille): suggested circulation of dysfunctional variant (Vianello 2001); defective activation by FIXa or RVV (Bezeaud 1995) | Heterozygous | Point | Missense | Exon 8 | c.1120T>C | TCC CCC | 374 | 334 | p.(Ser374Pro) | Serine Protease | ||