|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FIX |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
6 |
|
Affected Codon |
145 |
|
Affected nucleotide |
20413 |
|
Mutation AA |
R145C |
|
Mutation Nuc |
20413C>T |
|
Original-final codons |
CGT > TGT |
|
Affected domain |
- |
|
Refrence |
- |
|
AA change |
Arg > Cys |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HB |
|
Severity |
SEVERE |
|
FactorC(%) |
<1 |
|
FactorAg(%) |
- |
|
Origin |
|
|
ID |
3 |
|
|
|
|
|
