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Full registy entry

Patient Id

 URHB026

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 402

Affected nucleotide

 31326

Mutation AA

 S402F

Mutation Nuc

 31326C>T

Original-final codons

 TCC > TTC

Affected domain

 -

Refrence

 -

AA change

 Ser > Phe

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 4

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 2

 

   
 

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