|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
19 i 23 |
|
Affected Codon |
1997, 2171 |
|
Affected nucleotide |
6047, 6568 |
|
Mutation AA |
R1997L, L2171V |
|
Mutation Nuc |
6047G>T, 6568T>G |
|
Original-final codons |
CGG>CTG, TTA>GTA |
|
Affected domain |
- |
|
Refrence |
- |
|
AA change |
Arg>Leu, Leu>Val |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MILD |
|
FactorC(%) |
6 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
131 |
|
|
|
|
|
