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Full registry entry

Patient Id

 UMHA0401

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 13

Affected Codon

 668

Affected nucleotide

 2059

Mutation AA

 L668F

Mutation Nuc

 2059C>T

Original-final codons

 CTC>TTC

Affected domain

 A2

Refrence

 -

AA change

 Leu>Phe

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 6

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 276

 

   
 

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