l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0185

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 531

Affected nucleotide

 1649

Mutation AA

 R531H

Mutation Nuc

 1649G>A

Original-final codons

 CGC>CAC

Affected domain

 A2

Refrence

 -

AA change

 Arg>His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 15

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 279

 

   
 

Hemobase.com 2009