Mutation Details for c.244A>G
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cDNA Name
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c.244A>G
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Protein Name
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p.Met82Val
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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M82V
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Other Details
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The mutation was detected by DGGE analysis and characterized by direct sequencing.
We have seen it only once, in over 400 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-11
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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. There was no family history of CF. The fetus inherited the mutation but no other anomaly was detected after scanning of almost all the CFTR coding regions.
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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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