|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
INSERTION |
|
Gen |
FVIII |
|
Mutation effect |
FRAMESHIFT |
|
Region |
EXON |
|
Exon inton number |
14 |
|
Affected Codon |
847 |
|
Affected nucleotide |
2597-2598 |
|
Mutation AA |
FRAMESHIFT |
|
Mutation Nuc |
2597-2598insT |
|
Original-final codons |
1bp (T at codon 847) |
|
Affected domain |
B |
|
Refrence |
- |
|
AA change |
CANVI DE MARC DE LECTURA |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
SEVERE |
|
FactorC(%) |
0.4 |
|
FactorAg(%) |
- |
|
Origin |
|
|
ID |
249 |
|
|
|
|
|
