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Full registry entry

Patient Id

 UMHA1111

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1696

Affected nucleotide

 5143

Mutation AA

 R1696X

Mutation Nuc

 5143C>T

Original-final codons

 CGA>TGA

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 730

 

   
 

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