|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
NONSENSE |
|
Region |
EXON |
|
Exon inton number |
1 |
|
Affected Codon |
-5 |
|
Affected nucleotide |
43 |
|
Mutation AA |
R-5X |
|
Mutation Nuc |
43C>T |
|
Original-final codons |
CGA>TGA |
|
Affected domain |
PÉPTIDO SEÑAL |
|
Refrence |
- |
|
AA change |
|
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MODERATE |
|
FactorC(%) |
1,5-2 |
|
FactorAg(%) |
- |
|
Origin |
? |
|
ID |
346 |
|
|
|
|
|
