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Full registry entry

Patient Id

 UMHA0856

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 12

Affected Codon

 614

Affected nucleotide

 1898

Mutation AA

 M614R

Mutation Nuc

 1898T>G

Original-final codons

 ATG>AGG

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 445

 

   
 

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