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Full registry entry

Patient Id

 UMHA0599

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 704

Affected nucleotide

 2167

Mutation AA

 A704T

Mutation Nuc

 2167G>A

Original-final codons

 GCC>ACC

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 12

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 337

 

   
 

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