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Full registy entry

Patient Id

 URHB010

Inhibitors

  

Mutation Type

 DELETION

Gen

 FIX

Mutation effect

 AMINOACID DELETION

Region

 EXON

Exon inton number

 8

Affected Codon

 331

Affected nucleotide

 31113

Mutation AA

 331delV

Mutation Nuc

 31113-31115delTTG

Original-final codons

 3 (TTG)

Affected domain

 -

Refrence

 -

AA change

 - Val

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 8

 

   
 

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