|
Variant ID: 9 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.26T>C |
| Amino Acid Change | p.(Leu9Pro) (Legacy AA No. -32) | |
| Domain | Signal Peptide | |
| Sequence Context | CTG > CCG | |
| 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
here
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 (%) extrinsic | FX:C (%) intrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 241 | Homozygous | 23 | 15 | Asymptomatic | Female | Herrmann et al 2006 | no bleeding symptoms |