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Full registry entry

Patient Id

 UMHA1054

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 9

Affected Codon

 420

Affected nucleotide

 1315

Mutation AA

 G420C

Mutation Nuc

 1315G>T

Original-final codons

 GGT>TGT

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 716

 

   
 

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