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Full registry entry

Patient Id

 UMHA1209

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 17

Affected Codon

 1867

Affected nucleotide

 5656

Mutation AA

 H1867N

Mutation Nuc

 5656C>A

Original-final codons

 CAT>AAT

Affected domain

 A3

Refrence

 -

AA change

 His>Asn

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

  

ID

 776

 

   
 

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