|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
23 |
|
Affected Codon |
2163 |
|
Affected nucleotide |
6545 |
|
Mutation AA |
R2163H |
|
Mutation Nuc |
6545G>A |
|
Original-final codons |
CGC > CAC |
|
Affected domain |
C1 |
|
Refrence |
- |
|
AA change |
Arg > His |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MODERATE |
|
FactorC(%) |
2 |
|
FactorAg(%) |
- |
|
Origin |
FAMILIAR |
|
ID |
130 |
|
|
|
|
|
