l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA1128

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 19

Affected Codon

 2019

Affected nucleotide

 6113

Mutation AA

 N2019S

Mutation Nuc

 6113A>G

Original-final codons

 AAT>AGT

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 735

 

   
 

Hemobase.com 2009