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Case ID: 248 | ||||
|---|---|---|---|---|
| FX:C% (extrinsic) | 36 | |||
| FX:C% (intrinsic) | ||||
| FX:C% (RVV) | ||||
| FX:C% (unknown method) | ||||
| FX:Ag% | ||||
| Reported Bleeding Severity | Moderate | |||
| Case Gender | Female | |||
| Comments on Case | variable symptoms: haematomas; menorrhagia | |||
| Functional Analysis | ||||
| Analysis Type | ||||
| Reference | Herrmann et al 2006 | |||
The details of the variants found in this case are listed below
| Variant ID | No. of Cases | Minor Allele Frequency | Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely 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 | 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 | ||