Patient Id |
|
|
Inhibitors |
|
Mutation Type |
SUSTITUTION |
Gen |
FVIII |
Mutation effect |
MISSENSE |
Region |
EXON |
Exon inton number |
22 |
Affected Codon |
2124 |
Affected nucleotide |
6428 |
Mutation AA |
M2124T |
Mutation Nuc |
6428T>C |
Original-final codons |
ATG>ACG |
Affected domain |
C1 |
Refrence |
- |
AA change |
Met>Thr |
Diagnostic lab |
UDTM |
Coagulopathy |
HA |
Severity |
MILD |
FactorC(%) |
30 |
FactorAg(%) |
- |
Origin |
|
ID |
301 |
|
|
|
|