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Full registry entry

Patient Id

 UMHA0204

Inhibitors

  

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 847

Affected nucleotide

 2597-2598

Mutation AA

 FRAMESHIFT

Mutation Nuc

 2597-2598insT

Original-final codons

 1bp (T at codon 847)

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 0.4

FactorAg(%)

 -

Origin

  

ID

 249

 

   
 

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