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Full registry entry

Patient Id

 URHA180

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1040

Affected nucleotide

 3175

Mutation AA

 K1040X

Mutation Nuc

 3175A>T

Original-final codons

 AAA >TAA

Affected domain

 B

Refrence

 -

AA change

 Lys > Stop

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 140

 

   
 

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