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Full registry entry

Patient Id

 UMHA0026

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 NONSENSE

Region

 EXON

Exon inton number

 16

Affected Codon

 1817

Affected nucleotide

 5507

Mutation AA

 W1817X

Mutation Nuc

 5507G>A

Original-final codons

 TGG>TAG

Affected domain

 A3

Refrence

 -

AA change

 Trp>Stop

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 212

 

   
 

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