|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
11 |
|
Affected Codon |
531 |
|
Affected nucleotide |
1648 |
|
Mutation AA |
R531C |
|
Mutation Nuc |
1648C>T |
|
Original-final codons |
CGC > TGC |
|
Affected domain |
A2 |
|
Refrence |
- |
|
AA change |
Arg > Cys |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MILD |
|
FactorC(%) |
20 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
117 |
|
|
|
|
|
