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Full registy entry

Patient Id

 UMHB0060

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 296

Affected nucleotide

 31008

Mutation AA

 T296M

Mutation Nuc

 31008C>T

Original-final codons

 ACG>ATG

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 ?

FactorC(%)

 3.5

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 342

 

   
 

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