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Full registry entry

Patient Id

 URHA130

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1567

Affected nucleotide

 4757

Mutation AA

 W1567X

Mutation Nuc

 4757G>A

Original-final codons

 TGG > TAG

Affected domain

 B

Refrence

 -

AA change

 Trp > STOP

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 76

 

   
 

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