l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registy entry

Patient Id

 URHB095

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 2

Affected Codon

 3

Affected nucleotide

 6383

Mutation AA

 S3X

Mutation Nuc

 6383C>G

Original-final codons

 TCA>TGA

Affected domain

 -

Refrence

 -

AA change

 Ser>STOP

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 1,8

FactorAg(%)

 -

Origin

  

ID

 37

 

   
 

© Hemobase.com 2009