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Full registy entry

Patient Id

 UMHB0118

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 1

Affected Codon

 -28

Affected nucleotide

 85

Mutation AA

 L-28R

Mutation Nuc

 85T>G

Original-final codons

 CTT>CGT

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 411

 

   
 

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