l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registy entry

Patient Id

 URHB002

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 6

Affected Codon

 145

Affected nucleotide

 20413

Mutation AA

 R145C

Mutation Nuc

 20413C>T

Original-final codons

 CGT > TGT

Affected domain

 -

Refrence

 -

AA change

 Arg > Cys

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 3

 

   
 

© Hemobase.com 2009