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Full registry entry

Patient Id

 UMHA0939

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 10

Affected Codon

 479

Affected nucleotide

 1492

Mutation AA

 G479R

Mutation Nuc

 1492G>A

Original-final codons

 GGA>AGA

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

 ?

ID

 683

 

   
 

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