l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA1253

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 396

Affected nucleotide

 1244

Mutation AA

 A396V

Mutation Nuc

 1244C>T

Original-final codons

 GCT>GTT

Affected domain

 A2

Refrence

 -

AA change

 Ala>Val

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 5

FactorAg(%)

 -

Origin

 ?

ID

 785

 

   
 

Hemobase.com 2009