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Full registy entry

Patient Id

 UMHB0143

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 196

Affected nucleotide

 30039

Mutation AA

 V196I

Mutation Nuc

 30039

Original-final codons

 GTT>ATT

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 29

FactorAg(%)

 -

Origin

 ?

ID

 412

 

   
 

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