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Full registry entry

Patient Id

 URHA339

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 24

Affected Codon

 2189

Affected nucleotide

 6623

Mutation AA

 Q2189R

Mutation Nuc

 6623A>G

Original-final codons

 CAG>CGG

Affected domain

 C2

Refrence

 -

AA change

 Gln>Arg

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 26

FactorAg(%)

 -

Origin

  

ID

 186

 

   
 

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