Patient Id |
|
|
Inhibitors |
|
Mutation Type |
DELETION |
Gen |
FVIII |
Mutation effect |
FRAMESHIFT |
Region |
EXON |
Exon inton number |
19 |
Affected Codon |
2014 |
Affected nucleotide |
6099 |
Mutation AA |
FRAMESHIFT |
Mutation Nuc |
6099delT |
Original-final codons |
delT |
Affected domain |
A3 |
Refrence |
- |
AA change |
FRAMESHIFT |
Diagnostic lab |
UDTM |
Coagulopathy |
HA |
Severity |
SEVERE |
FactorC(%) |
? |
FactorAg(%) |
- |
Origin |
|
ID |
183 |
|
|
|
|