l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registy entry

Patient Id

 URHB003

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 2

Affected Codon

 29

Affected nucleotide

 6460

Mutation AA

 R29X

Mutation Nuc

 6460C>T

Original-final codons

 CGA > TGA

Affected domain

 -

Refrence

 -

AA change

 Arg > STOP

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 4

 

   
 

Hemobase.com 2009