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Full registy entry

Patient Id

 URHB076

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 352

Affected nucleotide

 31176

Mutation AA

 G352D

Mutation Nuc

 31176G>A

Original-final codons

 GGC>GAC

Affected domain

 -

Refrence

 -

AA change

 Gly>Asp

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 29

 

   
 

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