|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
NONSENSE |
|
Region |
EXON |
|
Exon inton number |
14 |
|
Affected Codon |
1567 |
|
Affected nucleotide |
4757 |
|
Mutation AA |
W1567X |
|
Mutation Nuc |
4757G>A |
|
Original-final codons |
TGG > TAG |
|
Affected domain |
B |
|
Refrence |
- |
|
AA change |
Trp > STOP |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
SEVERE |
|
FactorC(%) |
<1 |
|
FactorAg(%) |
- |
|
Origin |
|
|
ID |
76 |
|
|
|
|
|
