|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
NONSENSE |
|
Region |
EXON |
|
Exon inton number |
16 |
|
Affected Codon |
1817 |
|
Affected nucleotide |
5507 |
|
Mutation AA |
W1817X |
|
Mutation Nuc |
5507G>A |
|
Original-final codons |
TGG>TAG |
|
Affected domain |
A3 |
|
Refrence |
- |
|
AA change |
Trp>Stop |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
? |
|
FactorC(%) |
? |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
212 |
|
|
|
|
|
