l Site map 

 

Spanish English

Home HA mutations HB mutations Contributions Links

 

Full registry entry

Patient Id

 UMHA1125

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1502

Affected nucleotide

 4561

Mutation AA

 Q1502X

Mutation Nuc

 4561C>T

Original-final codons

 CAG>TAG

Affected domain

 B

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 733

 

   
 

Hemobase.com 2009