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Full registry entry

Patient Id

 UMHA0374

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 127

Affected nucleotide

 436

Mutation AA

 K127E

Mutation Nuc

 436A>G

Original-final codons

 AAA>GAA

Affected domain

 A1

Refrence

 -

AA change

 Lys>Glu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 30

FactorAg(%)

 -

Origin

 ?

ID

 270

 

   
 

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