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Full registry entry

Patient Id

 URHA325

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 4

Affected Codon

 113

Affected nucleotide

 396

Mutation AA

 E113D

Mutation Nuc

 396A>C

Original-final codons

 GAA>GAC

Affected domain

 A1

Refrence

 -

AA change

 Glu>Asp

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 182

 

   
 

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