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Full registry entry

Patient Id

 UMHA0630

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 19

Affected Codon

 2019

Affected nucleotide

 6113

Mutation AA

 N2019S

Mutation Nuc

 6113A>G

Original-final codons

 AAT>AGT

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 381

 

   
 

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