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Full registry entry

Patient Id

 UMHA0377

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 6

Affected Codon

 226

Affected nucleotide

 733

Mutation AA

 R226W

Mutation Nuc

 733C>T

Original-final codons

 CGG>TGG

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

  

ID

 375

 

   
 

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