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Full registy entry

Patient Id

 URHB091

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 3

Affected Codon

 46

Affected nucleotide

 6700

Mutation AA

 V46A

Mutation Nuc

 6700T>C

Original-final codons

 GTT>GCT

Affected domain

 -

Refrence

 -

AA change

 Val>Ala

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 33

FactorAg(%)

 -

Origin

 ?

ID

 35

 

   
 

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