|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
11 |
|
Affected Codon |
504 |
|
Affected nucleotide |
1569 |
|
Mutation AA |
L504L |
|
Mutation Nuc |
1569G>T |
|
Original-final codons |
CGT>CTT |
|
Affected domain |
A2 |
|
Refrence |
- |
|
AA change |
Leu>Leu |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MILD |
|
FactorC(%) |
7 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
129 |
|
|
|
|
|
