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Full registry entry

Patient Id

 URHA276

Inhibitors

  

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 10

Affected Codon

 477

Affected nucleotide

 1487

Mutation AA

 FRAMESHIFT

Mutation Nuc

 1487delC

Original-final codons

 delC

Affected domain

 A2

Refrence

 -

AA change

 FRAMESHIFT

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 171

 

   
 

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