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Full registry entry

Patient Id

 UMHA0324

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 22

Affected Codon

 2124

Affected nucleotide

 6428

Mutation AA

 M2124T

Mutation Nuc

 6428T>C

Original-final codons

 ATG>ACG

Affected domain

 C1

Refrence

 -

AA change

 Met>Thr

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

  

ID

 301

 

   
 

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