l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0738

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 22

Affected Codon

 2082

Affected nucleotide

 6301

Mutation AA

 H2082D

Mutation Nuc

 6301C>G

Original-final codons

 CAC>GAC

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 18

FactorAg(%)

 -

Origin

  

ID

 415

 

   
 

Hemobase.com 2009