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Full registry entry

Patient Id

 UMHA0862

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1704

Affected nucleotide

 5168

Mutation AA

 E1704G

Mutation Nuc

 5168A>G

Original-final codons

 GAG>GGG

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MODERATE

FactorC(%)

 4

FactorAg(%)

 -

Origin

 ?

ID

 447

 

   
 

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