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Full registry entry

Patient Id

 UMHA1148

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 283

Affected nucleotide

 904

Mutation AA

 Q283X

Mutation Nuc

 904C>T

Original-final codons

 CAG>TAG

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 741

 

   
 

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