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Full registry entry

Patient Id

 UMHA1248

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1696

Affected nucleotide

 5144

Mutation AA

 R1696Q

Mutation Nuc

 5144G>A

Original-final codons

 CGA>CAA

Affected domain

 A3

Refrence

 -

AA change

 Arg>Gln

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 784

 

   
 

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