|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
4 |
|
Affected Codon |
146 |
|
Affected nucleotide |
494 |
|
Mutation AA |
P146L |
|
Mutation Nuc |
494C>T |
|
Original-final codons |
CCA>CTA |
|
Affected domain |
A1 |
|
Refrence |
- |
|
AA change |
Pro>Leu |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
SEVERE |
|
FactorC(%) |
<1 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
288 |
|
|
|
|
|
