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Full registry entry

Patient Id

 UMHA0790

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2136

Affected nucleotide

 6463

Mutation AA

 K2136E

Mutation Nuc

 6463A>G

Original-final codons

 AAA>GAA

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 14-20

FactorAg(%)

 -

Origin

 ?

ID

 422

 

   
 

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