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Full registy entry

Patient Id

 URHB095

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 2

Affected Codon

 3

Affected nucleotide

 6383

Mutation AA

 S3X

Mutation Nuc

 6383C>G

Original-final codons

 TCA>TGA

Affected domain

 -

Refrence

 -

AA change

 Ser>STOP

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 1,8

FactorAg(%)

 -

Origin

  

ID

 37

 

   
 

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