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Full registry entry

Patient Id

 UMHA0732

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1030

Affected nucleotide

 3145

Mutation AA

 Q1030X

Mutation Nuc

 3145C>T

Original-final codons

 CAA>TAA

Affected domain

 B

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 441

 

   
 

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