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)![]() |
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) | Homozygous | Point | Missense | Exon 5 | c.424G>A | GAG AAG | 142 | 102 | p.(Glu142Lys) | EGF2 |