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Full registry entry

Patient Id

 UMHA0636

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 15

Affected Codon

 1756

Affected nucleotide

 5324

Mutation AA

 L1756S

Mutation Nuc

 5324T>C

Original-final codons

 TTG>TCG

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 394

 

   
 

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