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Full registry entry

Patient Id

 UMHA0124

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 13

Affected Codon

 643

Affected nucleotide

 1985

Mutation AA

 G643A

Mutation Nuc

 1985G>C

Original-final codons

 GGA>GCA

Affected domain

 A2

Refrence

 -

AA change

 Gly>Ala

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 66

 

   
 

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