l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registy entry

Patient Id

 URHB079

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 5

Affected Codon

 127

Affected nucleotide

 17796

Mutation AA

 A127A

Mutation Nuc

 17796A>G

Original-final codons

 GCA>GCG

Affected domain

 -

Refrence

 -

AA change

 Ala>Ala

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 1,3

FactorAg(%)

 -

Origin

  

ID

 31

 

   
 

© Hemobase.com 2009