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Full registy entry

Patient Id

 UMHB0223

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 245

Affected nucleotide

 30854

Mutation AA

 E245K

Mutation Nuc

 30854G>A

Original-final codons

 GAG>AAG

Affected domain

 -

Refrence

 -

AA change

 Glu>Lys

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 808

 

   
 

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