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Full registry entry

Patient Id

 UMHA0162

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 5

Affected Codon

 -

Affected nucleotide

 IVS 5 -17 -28

Mutation AA

 SPLICING ERROR

Mutation Nuc

 IVS 5 -17 -28 del(ACTCTATCTTTG)

Original-final codons

 12 (actctatctttg)

Affected domain

 -

Refrence

 -

AA change

 ERROR DE SPLICING

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 12

FactorAg(%)

 -

Origin

 ?

ID

 235

 

   
 

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