|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
14 |
|
Affected Codon |
1689 |
|
Affected nucleotide |
5123 |
|
Mutation AA |
R1689H |
|
Mutation Nuc |
5123G>A |
|
Original-final codons |
CGC>CAC |
|
Affected domain |
- |
|
Refrence |
- |
|
AA change |
Arg>His |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
MILD |
|
FactorC(%) |
20 |
|
FactorAg(%) |
- |
|
Origin |
|
|
ID |
251 |
|
|
|
|
|
