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Full registry entry

Patient Id

 UMHA0930

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 22

Affected Codon

 2082

Affected nucleotide

 6301

Mutation AA

 H2082D

Mutation Nuc

 6301C>G

Original-final codons

 CAC>GAC

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MODERATE

FactorC(%)

 4,9

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 462

 

   
 

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