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Full registy entry

Patient Id

 UMHB0011

Inhibitors

  

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

 Thr>Met

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 2.5

FactorAg(%)

 -

Origin

  

ID

 43

 

   
 

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