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Full registry entry

Patient Id

 UMHA1267

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(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 790

 

   
 

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