Mutation Details for c.3059T>A

cDNA Name c.3059T>A 
Protein Name p.Val1020Glu 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name V1020E 
Other Details The mutation was identified in a CF neonate who also had 712-1G>T. Biochemical and phylogenic inspection of the amino-acid change suggest a deleterious effect of V1020E. In addition, no other CFTR mutation was found after extensive screening of the coding regions and screening for large rearrangements. 
Contributors E. Girodon, M. Legendre, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Prenatal presentation: hyperechogenic bowel observed at 22 weeks of gestation. Only a screening for frequent mutations was performed at that time and the pregnancy was continued to term. Meconium ileus at birth. Positive sweat test (chloride 145 mEq/L). 

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The Database was last updated at Apr 25, 2011