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Full registry entry

Patient Id

 UMHA1152

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 247

Affected nucleotide

 796

Mutation AA

 G247X

Mutation Nuc

 796G>T

Original-final codons

 GGA>TGA

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 744

 

   
 

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