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Full registy entry

Patient Id

 URHB009

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 248

Affected nucleotide

 30864

Mutation AA

 R248Q

Mutation Nuc

 30864G>A

Original-final codons

 CGA > CAA

Affected domain

 -

Refrence

 -

AA change

 Arg > Gln

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 7

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 7

 

   
 

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