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Full registy entry

Patient Id

 UMHB0201

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 378

Affected nucleotide

 31254

Mutation AA

 F378S

Mutation Nuc

 31254T>C

Original-final codons

 TTC>TCC

Affected domain

 -

Refrence

 -

AA change

 Phe>Ser

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 799

 

   
 

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