l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0971

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2150

Affected nucleotide

 6506

Mutation AA

 R2150H

Mutation Nuc

 2150G>A

Original-final codons

 CGT>CAT

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 9

FactorAg(%)

 -

Origin

 ?

ID

 688

 

   
 

Hemobase.com 2009