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Full registry entry

Patient Id

 URHA022

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 531

Affected nucleotide

 1648

Mutation AA

 R531C

Mutation Nuc

 1648C>T

Original-final codons

 CGC>TGC

Affected domain

 A2

Refrence

 -

AA change

 Arg>Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 10

FactorAg(%)

 -

Origin

  

ID

 95

 

   
 

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