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Full registry entry

Patient Id

 URHA092

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 15

Affected Codon

 1763

Affected nucleotide

 5345

Mutation AA

 I1763R

Mutation Nuc

 5345T>G

Original-final codons

 ATA>AGA

Affected domain

 A3

Refrence

 -

AA change

 Ile>Arg

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 122

 

   
 

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