Mutation Details for c.52A>G
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cDNA Name
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c.52A>G
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Protein Name
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p.Ser18Gly
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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S18G
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Other Details
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The mutation was detected by DGGE analysis and characterised by direct sequencing.
We have seen it only twice, in over 4000 non-[delta]F508 chromosomes screened.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-04-03
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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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Patient a:
This individual (M) from from Southern Italy is 30y and is NOT a CF patient, his wife is deltaF508/ N. No other mutation was found.
Patient b:
The mutation was found in a North Italian (male) diagnosed at 5 years, having sweat chloride 47 mmol/l and with no respiratory symptoms , the pancreatic status (sufficient/nonsufficient) is unknown. He carries 125 g/c on the other allele.
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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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