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Full registry entry

Patient Id

 URHA279

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1976

Affected nucleotide

 5985

Mutation AA

 Y1976X

Mutation Nuc

 5985C>A

Original-final codons

 TAC>TAA

Affected domain

 A3

Refrence

 -

AA change

 Tyr>STOP

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 172

 

   
 

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