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Full registry entry

Patient Id

 UMHA0460

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2155

Affected nucleotide

 6520

Mutation AA

 H2155D

Mutation Nuc

 6520C>G

Original-final codons

 CAT>GAT

Affected domain

 C1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 363

 

   
 

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