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Full registy entry

Patient Id

 UMHB0057

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 2

Affected Codon

 -

Affected nucleotide

 6676

Mutation AA

 SPLICING ERROR

Mutation Nuc

 IVS2-2A>G

Original-final codons

 atag/GAC>atgg/GAC

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 369

 

   
 

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