l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 URHA356

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1689

Affected nucleotide

 5122

Mutation AA

 R1689C

Mutation Nuc

 5122C>T

Original-final codons

 CGC>TGC

Affected domain

 -

Refrence

 -

AA change

 Arg>Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 189

 

   
 

Hemobase.com 2009