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Full registry entry

Patient Id

 URHA006

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 372

Affected nucleotide

 1171

Mutation AA

 R372C

Mutation Nuc

 1171C>T

Original-final codons

 CGC > TGC

Affected domain

 -

Refrence

 -

AA change

 Arg > Cys

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 83

 

   
 

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