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Full registry entry

Patient Id

 URHA409

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1941

Affected nucleotide

 5878

Mutation AA

 R1941X

Mutation Nuc

 5878C>T

Original-final codons

 CGA>TGA

Affected domain

 A3

Refrence

 -

AA change

 Arg>STOP

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 187

 

   
 

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