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Full registry entry

Patient Id

 UMHA0064

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1689

Affected nucleotide

 5123

Mutation AA

 R1689H

Mutation Nuc

 5123G>A

Original-final codons

 CGC>CAC

Affected domain

 -

Refrence

 -

AA change

 Arg>His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 20

FactorAg(%)

 -

Origin

  

ID

 232

 

   
 

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