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Full registry entry

Patient Id

 UMHA0223

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 380

Affected nucleotide

 1195

Mutation AA

 K380E

Mutation Nuc

 1195A>G

Original-final codons

 AAA>GAA

Affected domain

 A2

Refrence

 -

AA change

 Lys>Glu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 10-15

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 255

 

   
 

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