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Full registry entry

Patient Id

 URHA255

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 17

Affected Codon

 1885

Affected nucleotide

 5711

Mutation AA

 E1885G

Mutation Nuc

 5711A>G

Original-final codons

 GAG>GGG

Affected domain

 A3

Refrence

 -

AA change

 Glu>Gly

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 163

 

   
 

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