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Full registry entry

Patient Id

 URHA273

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 24

Affected Codon

 2193

Affected nucleotide

 6635

Mutation AA

 S2193X

Mutation Nuc

 6635C>A

Original-final codons

 TCA>TAA

Affected domain

 C2

Refrence

 -

AA change

 Ser>STOP

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 170

 

   
 

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