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Full registry entry

Patient Id

 UMHA0197

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 9

Affected Codon

 439

Affected nucleotide

 1372

Mutation AA

 R439C

Mutation Nuc

 1372C>T

Original-final codons

 CGT>TGT

Affected domain

 A2

Refrence

 -

AA change

 Arg>Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 282

 

   
 

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