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Full registry entry

Patient Id

 URHA153

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2150

Affected nucleotide

 6506

Mutation AA

 R2150H

Mutation Nuc

 6506G>A

Original-final codons

 CGT > CAT

Affected domain

 C1

Refrence

 -

AA change

 Arg > His

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 10

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 133

 

   
 

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