|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FIX |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
8 |
|
Affected Codon |
248 |
|
Affected nucleotide |
30864 |
|
Mutation AA |
R248Q |
|
Mutation Nuc |
30864G>A |
|
Original-final codons |
CGA > CAA |
|
Affected domain |
- |
|
Refrence |
- |
|
AA change |
Arg > Gln |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HB |
|
Severity |
MILD |
|
FactorC(%) |
7 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
7 |
|
|
|
|
|
