l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registy entry

Patient Id

 URHB038

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 1

Affected Codon

 -19

Affected nucleotide

 111

Mutation AA

 C-19G

Mutation Nuc

 111T>G

Original-final codons

 TGT>GGT

Affected domain

 -

Refrence

 -

AA change

 Cys>Gly

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 17

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 17

 

   
 

Hemobase.com 2009