|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
DELETION |
|
Gen |
FVIII |
|
Mutation effect |
FRAMESHIFT |
|
Region |
EXON |
|
Exon inton number |
20 |
|
Affected Codon |
2020 |
|
Affected nucleotide |
6116-6117 |
|
Mutation AA |
FRAMESHIFT |
|
Mutation Nuc |
6116-6117delAG |
|
Original-final codons |
2 (AG) |
|
Affected domain |
A3 |
|
Refrence |
- |
|
AA change |
CANVI DE MARC DE LECTURA |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
SEVERE |
|
FactorC(%) |
<1 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
304 |
|
|
|
|
|
