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Full registry entry

Patient Id

 UMHA1255

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 AMINOACID DELETION

Region

 EXON

Exon inton number

 11

Affected Codon

 518

Affected nucleotide

 1611-1613

Mutation AA

 E518del

Mutation Nuc

 1611-1613delAGA

Original-final codons

 delAGA

Affected domain

 A2

Refrence

 -

AA change

 delGlu

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 20

FactorAg(%)

 -

Origin

 ?

ID

 787

 

   
 

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