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Full registry entry

Patient Id

 UMHA0454

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 16

Affected Codon

 1825

Affected nucleotide

 5531

Mutation AA

 P1825L

Mutation Nuc

 5531C>T

Original-final codons

 CCC>CTC

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 15

FactorAg(%)

 -

Origin

 ?

ID

 353

 

   
 

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