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Full registry entry

Patient Id

 UMHA1139

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 11

Affected Codon

 552

Affected nucleotide

 1711

Mutation AA

 L552F

Mutation Nuc

 1711C>T

Original-final codons

 CTC>TTC

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 34

FactorAg(%)

 -

Origin

  

ID

 736

 

   
 

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