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Full registry entry

Patient Id

 URHA078

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 12

Affected Codon

 593

Affected nucleotide

 1834

Mutation AA

 R593C

Mutation Nuc

 1834C>T

Original-final codons

 CGC > TGC

Affected domain

 A2

Refrence

 -

AA change

 Arg > Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 16

FactorAg(%)

 -

Origin

  

ID

 118

 

   
 

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