l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0957

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 704

Affected nucleotide

 2167

Mutation AA

 A704T

Mutation Nuc

 2167G>A

Original-final codons

 GCC>ACC

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 17

FactorAg(%)

 -

Origin

 ?

ID

 469

 

   
 

Hemobase.com 2009