|
Variant ID: 147 |
Type | Point |
|---|---|---|
| Effect | Nonsense | cDNA Change | c.1152C>A |
| Amino Acid Change | p.(Tyr384*) (Legacy AA No. 344) | |
| Domain | Serine Protease | |
| Sequence Context | TAC > TAA | |
| Location | Exon 8 | |
| Minor Allele Frequency (MAF) | 4.0E-6 | |
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant |
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 625 | Heterozygous | 2 | 51 | Moderate | Male | Lu et al 2021 | History of moderate bleeding after trauma: subdural haemorrhage after a fall | ||||
| 626 | Heterozygous | 1 | 58 | Asymptomatic | Male | Lu et al 2021 | |||||
| 630 | Heterozygous | 48 | 61 | Asymptomatic | Female | Lu et al 2021 | |||||
| 631 | Heterozygous | 46 | 46 | Asymptomatic | Male | Lu et al 2021 |