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)![]() |
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 |