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Full registry entry

Patient Id

 UMHA0815

Inhibitors

 ?

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 16

Affected Codon

 1781

Affected nucleotide

 5399

Mutation AA

 R1781H

Mutation Nuc

 5399G>A

Original-final codons

 CGT>CAT

Affected domain

 A3

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MODERATE

FactorC(%)

 4

FactorAg(%)

 -

Origin

 ?

ID

 424

 

   
 

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