Patient Id |
|
|
Inhibitors |
|
Mutation Type |
SUSTITUTION |
Gen |
FIX |
Mutation effect |
MISSENSE |
Region |
EXON |
Exon inton number |
8 |
Affected Codon |
296 |
Affected nucleotide |
31008 |
Mutation AA |
T296M |
Mutation Nuc |
31008C>T |
Original-final codons |
ACG>ATG |
Affected domain |
- |
Refrence |
- |
AA change |
|
Diagnostic lab |
UDTM |
Coagulopathy |
HB |
Severity |
? |
FactorC(%) |
3.5 |
FactorAg(%) |
- |
Origin |
FAMILIAR |
ID |
342 |
|
|
|
|