Mutation Details for c.1826A>T
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cDNA Name
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c.1826A>T
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Protein Name
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p.His609Leu
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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H609L
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Other Details
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This mutation was identified on one Italian CF chromosome
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Contributors
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S. Petrocchi, S. Russo, M.R. D?Apice, P. Piermattei, G. Novelli
2006-07-05
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Institute
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Tor Vergata University, Dept of Biopathology, Rome Italy
A.O.U. Ospedali Riuniti Umberto I - GM Lancisi ? G.Salesi, Ancona, Italy
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Submitted Phenotype Details
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The individual (female, 1y) was suspected since the birth. Neonatal IRT screening is positive. She has sweat-chloride levels ranging from 55mM/l to 69mM/l.
She has 4016insT on the other chromosome.
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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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