Mutation Details for c.1756A>G
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cDNA Name
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c.1756A>G
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Protein Name
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p.Ile586Val
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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I586V
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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 2000 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-18
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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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The change was found in the asymptomatic wife (poliT 7-7 and 1716 a/g polimorfism), from North-East Italy, of a CF carrier with azoospermia (R117H and L997F with poliT 7-9). The CFTR test is performed in a couple attempting assisted reproductive techniques.
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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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