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Full registry entry

Patient Id

 UMHA0222

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 23

Affected Codon

 2136

Affected nucleotide

 6463

Mutation AA

 K2136E

Mutation Nuc

 6463A>G

Original-final codons

 AAA>GAA

Affected domain

 C1

Refrence

 -

AA change

 Lys>Glu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 20

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 254

 

   
 

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