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Full registry entry

Patient Id

 UMHA0403

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 16

Affected Codon

 1783

Affected nucleotide

 5405

Mutation AA

 Y1783C

Mutation Nuc

 5405A>G

Original-final codons

 TAT>TGT

Affected domain

 A3

Refrence

 -

AA change

 Tyr>Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 15

FactorAg(%)

 -

Origin

  

ID

 277

 

   
 

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