l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0174

Inhibitors

  

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 23

Affected Codon

 2137

Affected nucleotide

 6468-6469

Mutation AA

 FRAMESHIFT

Mutation Nuc

 6468-6469delAC

Original-final codons

 2 (AC)

Affected domain

 C1

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 245

 

   
 

© Hemobase.com 2009