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Full registry entry

Patient Id

 UMHA1014

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 10

Affected Codon

 479

Affected nucleotide

 1492

Mutation AA

 G479R

Mutation Nuc

 1492G>A

Original-final codons

 GGA>AGA

Affected domain

 A2

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 15

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 700

 

   
 

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