Mutation Details for c.2687_2690delCTCAinsTGAGTACTATGAG
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cDNA Name
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c.2687_2690delCTCAinsTGAGTACTATGAG
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Protein Name
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p.Thr896IlefsX9
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2819del4bpins13bp
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Other Details
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This sequence variation was detected by DGGE and identified by direct sequencing This mutation was identified on two Italian CF chromosome It was found twice out of 1800 control chromosomes from Italian population.
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Contributors
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Picci, L, Cameran M, Scarpa M,
2004-06-16
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Institute
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Lab. Genetica Molecolare Dipartimento di Pediatria, Padova, Italy
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Submitted Phenotype Details
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The mutation was found in two patients: 35 years mals diagnosed with CBAVD and oligosperm (no lung disease and normal sweat chloride) they carries 125 g/c sequence variation The pancreatic status (sufficient/nonsufficient) is unknown.
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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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