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Full registy entry

Patient Id

 URHB017

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 1

Affected Codon

 -17

Affected nucleotide

 117

Mutation AA

 V-17I

Mutation Nuc

 117G>A

Original-final codons

 GTT > ATT

Affected domain

 -

Refrence

 -

AA change

 Val > Ile

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 11

 

   
 

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