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Full registry entry

Patient Id

 UMHA0264

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 146

Affected nucleotide

 494

Mutation AA

 P146L

Mutation Nuc

 494C>T

Original-final codons

 CCA>CTA

Affected domain

 A1

Refrence

 -

AA change

 Pro>Leu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 288

 

   
 

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