Mutation Details for c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA
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cDNA Name
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c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA
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Protein Name
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p.Leu259SerfsX7
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Exon or Intron
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exon 7
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Other Details
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This mutation was identified on 1 Italian CF patient, applying a protocol of extended mutational search (5’-flanking region, all the exons and adjacent intronic regions) by direct sequencing. No other mutations were found on the same allele. The 2789+5GtoA mutation was found on the other allele.
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Contributors and Institutes
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| Lucarelli M | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Pierandrei S | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Di Gioia S A | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Narzi L | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Bruno S M | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Stamato A | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Quattrucci S | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Strom S | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome |
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Submitted Phenotype Details
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The individual (male, 4 years) with 907delCins29 / 2789+5GtoA genotype was selected by neonatal screening and diagnosed CF. He is PS with sweat chloride test at 85 and 93 mmol/l. He has mild lung disease with intermittent P. aeruginosa isolates, peribronchial infiltration and moderate air trapping. No meconium ileus. No liver involvement.
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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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