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Full registry entry

Patient Id

 UMHA1052

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 1

Affected Codon

 -19

Affected nucleotide

 3

Mutation AA

 M-19I

Mutation Nuc

 3G>A

Original-final codons

 ATG>ATA

Affected domain

 PÉPTIDO SEÑAL

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 715

 

   
 

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