Mutation Details for c.3059T>A
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cDNA Name
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c.3059T>A
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Protein Name
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p.Val1020Glu
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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V1020E
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Other Details
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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.
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Contributors
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E. Girodon, M. Legendre, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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