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Full registry entry

Patient Id

 UMHA0504

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 527

Affected nucleotide

 1636

Mutation AA

 R527W

Mutation Nuc

 1636C>T

Original-final codons

 CGG>TGG

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 327

 

   
 

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