l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 URHA320

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1194

Affected nucleotide

 3637

Mutation AA

 FRAMESHIFT

Mutation Nuc

 3637delA

Original-final codons

 delA

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 ?

ID

 180

 

   
 

Hemobase.com 2009