|
Variant ID: 103 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.854A>T |
| Amino Acid Change | p.(Lys285Met) (Legacy AA No. 245) | |
| Domain | Serine Protease | |
| Sequence Context | AAG > ATG | |
| Location | Exon 7 | |
| 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 (%) extrinsic | FX:C (%) intrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 375 | Homozygous | <1 | <1 | Mild | Male | Mota et al 2010 | Ecchymoses; post-circumcision bleed |