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Full registry entry

Patient Id

 UMHA0935

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 528

Affected nucleotide

 1639

Mutation AA

 C528R

Mutation Nuc

 1639T>C

Original-final codons

 TGC>CGC

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 680

 

   
 

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