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Full registry entry

Patient Id

 UMHA0466

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 730

Affected nucleotide

 2246

Mutation AA

 L730X

Mutation Nuc

 2246T>A

Original-final codons

 TTG>TAG

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 338

 

   
 

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