|
Variant ID: 11 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.34G>C |
| Amino Acid Change | p.(Ala12Pro) (Legacy AA No. -29) | |
| Domain | Signal Peptide | |
| Sequence Context | GCC > CCC | |
| Location | Exon 1 | |
| Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant |
For missense variants click
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to view amino-acid sequence comparison.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 424 | Heterozygous | 7 | 5 | 5 | 10 | Moderate | Male | Liang et al 2013 | Family history of bleeding: chromogenic FX:C 2%; three haemorrhagic episodes: scrotal haematoma; haematuria and intramuscular haematoma | ||
| 425 | Heterozygous | 56 | 53 | 54 | 55 | Asymptomatic | Female | Liang et al 2013 | Granddaughter of case 424 |