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Full registy entry

Patient Id

 UMHB0008

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 403

Affected nucleotide

 31328

Mutation AA

 R403W

Mutation Nuc

 31328C>T

Original-final codons

 CGG>TGG

Affected domain

 -

Refrence

 -

AA change

 Arg>Trp

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 42

 

   
 

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