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Full registry entry

Patient Id

 UMHA0431

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 511

Affected nucleotide

 1588

Mutation AA

 Y511N

Mutation Nuc

 1588T>A

Original-final codons

 TAT>AAT

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MODERATE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 326

 

   
 

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