|
Patient Id |
|
 |
|
Inhibitors |
|
|
Mutation Type |
SUSTITUTION |
|
Gen |
FVIII |
|
Mutation effect |
MISSENSE |
|
Region |
EXON |
|
Exon inton number |
13 i 14 |
|
Affected Codon |
672, 1696 |
|
Affected nucleotide |
2072, 5144 |
|
Mutation AA |
P672L, R1696Q |
|
Mutation Nuc |
2072C>T, 5144G>A |
|
Original-final codons |
CCA>CTA, CGA>CAA |
|
Affected domain |
- |
|
Refrence |
- |
|
AA change |
Pro>Leu, Arg>Gln |
|
Diagnostic lab |
UDTM |
|
Coagulopathy |
HA |
|
Severity |
SEVERE |
|
FactorC(%) |
? |
|
FactorAg(%) |
- |
|
Origin |
? |
|
ID |
307 |
|
|
|
|
|
