Mutation Details for c.490-16T>C
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cDNA Name
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c.490-16T>C
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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622-16 T/C
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Other Details
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The mutation was detected by DGGE analysis and characterized by direct sequencing.
This variation was not found in 1000 non CF chromosomes tested.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova, Italy
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Submitted Phenotype Details
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It was found in the mother of a fetus having hyperechogenic bowel, no mutation was found to the father after scanning all CFTR exons. There was no family history of CF.
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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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