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Full registry entry

Patient Id

 URHA385

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 704

Affected nucleotide

 2168

Mutation AA

 A704D

Mutation Nuc

 2168C>A

Original-final codons

 GCC>GAC

Affected domain

 A2

Refrence

 -

AA change

 Ala>Asp

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 200

 

   
 

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