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Full registry entry

Patient Id

 UMHA0457

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 2

Affected Codon

 64

Affected nucleotide

 248

Mutation AA

 P64R

Mutation Nuc

 248C>G

Original-final codons

 CCA>CGA

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

 ?

ID

 339

 

   
 

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