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Full registry entry

Patient Id

 UMHA0145

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 18

Affected Codon

 1963

Affected nucleotide

 5944

Mutation AA

 F1963L

Mutation Nuc

 5944T>C

Original-final codons

 TTC>CTC

Affected domain

 A3

Refrence

 -

AA change

 Phe>Leu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

  

ID

 246

 

   
 

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