|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
19 |
|
Affected Codon |
1997 |
|
Affected nucleotide |
6047 |
|
Mutation AA |
R1997Q |
|
Mutation Nuc |
6047G>A |
|
Original-final codons |
CGG>CAG |
|
Affected domain |
A3 |
|
Refrence |
- |
|
AA change |
Arg>Gln |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MILD |
|
FactorC(%) |
38 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
54 |
|
|
|
|
|
