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Full registry entry

Patient Id

 UMHA0081

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 282

Affected nucleotide

 902

Mutation AA

 R282H

Mutation Nuc

 902G>A

Original-final codons

 CGC>CAC

Affected domain

 A1

Refrence

 -

AA change

 Arg>His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 52

 

   
 

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