Variant ID: 63 |
Type | Point |
---|---|---|
Effect | Missense | cDNA Change | c.424G>A |
Amino Acid Change | p.(Glu142Lys) (Legacy AA No. 102) | |
Domain | EGF2 | |
Sequence Context | GAG > AAG | |
Location | Exon 5 | |
Minor Allele Frequency (MAF) | 0.004489 | |
Pathogenicity (ACMG)![]() |
TBA | |
Comments on Variant | FX Vienna 2: recombinant variant shows only minor functional defect (Forberg 2000): not thought pathogenic (Watzke 1990) |
For missense variants click
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The details of the cases reported with the above variant are listed below
Case ID | Other Variants found in case |
Genotype | FX:C (%) intrinsic | FX:C (%) extrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
---|---|---|---|---|---|---|---|---|---|---|---|
248 | Homozygous | 36 | Moderate | Female | Herrmann et al 2006 | variable symptoms: haematomas; menorrhagia | |||||
78 | Heterozygous | 56 | 68 | Not Reported | Not Reported | Forberg et al 2000 | Sibling of case 76 | ||||
77 | Homozygous | <1 | 24 | Not Reported | Female | Forberg et al 2000 | Sister of case 76 | ||||
76 | Homozygous | <1 | 30 | 18 | 20 | Mild | Female | Forberg et al 2000 | Mild bruising since childhood; no postoperative bleeding | ||
38 | Heterozygous | 26 | 56 | 68 | 66 | Asymptomatic | Female | Marchetti et al 1995 | Sister of case 37 | ||
37 | Heterozygous | 20 | 56 | 54 | 72 | Asymptomatic | Male | Marchetti et al 1995 | Brother of case 38 | ||
7 | Heterozygous | 8 | Not Reported | Male | Watzke et al 1990 | p.(Glu54Lys) likely cause of deficiency; brother of case 5 | |||||
6 | Heterozygous | 5 | Not Reported | Male | Watzke et al 1990 | p.(Glu54Lys) likely cause of deficiency; brother of case 5 | |||||
5 | Heterozygous | 5 | 25 | 15 | 20 | Mild | Female | Watzke et al 1990 | Mild bruising since childhood; p.(Glu54Lys) likely cause of deficiency | ||
483 | Heterozygous | 50 | Asymptomatic | Not Reported | Pavlova et al 2015 | ||||||
492 | Heterozygous | 53 | Not Reported | Not Reported | Rath et al 2015 |