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Full registry entry

Patient Id

 UMHA0535

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 22

Affected Codon

 2087

Affected nucleotide

 6317

Mutation AA

 Q2087P

Mutation Nuc

 6317A>C

Original-final codons

 CAG>CCG

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 0

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 358

 

   
 

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