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Full registy entry

Patient Id

 URHB019

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 5

Affected Codon

 123

Affected nucleotide

 17783

Mutation AA

 S123C

Mutation Nuc

 17783C>G

Original-final codons

 TCC > TGC

Affected domain

 -

Refrence

 -

AA change

 Ser > Cys

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 10-20

FactorAg(%)

 -

Origin

 ?

ID

 12

 

   
 

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