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Full registry entry

Patient Id

 URHA128

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1960

Affected nucleotide

 5936

Mutation AA

 G1960E

Mutation Nuc

 5936G>A

Original-final codons

 GGA > GAA

Affected domain

 A3

Refrence

 -

AA change

 Gly > Glu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 35

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 132

 

   
 

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