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Full registy entry

Patient Id

 URHB079

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 5

Affected Codon

 127

Affected nucleotide

 17796

Mutation AA

 A127A

Mutation Nuc

 17796A>G

Original-final codons

 GCA>GCG

Affected domain

 -

Refrence

 -

AA change

 Ala>Ala

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 1,3

FactorAg(%)

 -

Origin

  

ID

 31

 

   
 

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