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Full registry entry

Patient Id

 UMHA0589

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 24

Affected Codon

 2189

Affected nucleotide

 6622

Mutation AA

 Q2189E

Mutation Nuc

 6622C>G

Original-final codons

 CAG>GAG

Affected domain

 C2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30-40

FactorAg(%)

 -

Origin

  

ID

 368

 

   
 

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