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Full registry entry

Patient Id

 UMHA0128

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 272

Affected nucleotide

 871

Mutation AA

 E272K

Mutation Nuc

 871G>A

Original-final codons

 GAA>AAA

Affected domain

 A1

Refrence

 -

AA change

 Glu>Lys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 130

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 69

 

   
 

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