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)![]() |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|
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 |