l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA0038

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 19

Affected Codon

 -

Affected nucleotide

 -

Mutation AA

 -

Mutation Nuc

 IVS19+9C>G

Original-final codons

 TA/gtgagtagc>TA/gtgagtagg

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 23

FactorAg(%)

 -

Origin

  

ID

 217

 

   
 

Hemobase.com 2009