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Full registry entry

Patient Id

 UMHA0682

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1680

Affected nucleotide

 5096

Mutation AA

 Y1680F

Mutation Nuc

 5096A>T

Original-final codons

 TAT>TTT

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 16

FactorAg(%)

 -

Origin

 ?

ID

 416

 

   
 

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