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Full registry entry

Patient Id

 UMHA0440

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 20

Affected Codon

 2040

Affected nucleotide

 6175

Mutation AA

 S2040P

Mutation Nuc

 6175T>C

Original-final codons

 TCA>CCA

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 356

 

   
 

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