Mutation Details for c.1616T>C
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cDNA Name
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c.1616T>C
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Protein Name
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p.Ile539Thr
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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I539T
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Other Details
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The above mutation was detected by DGGE with chemical clamps and characterized by direct sequencing.
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Contributors
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Chomel J-C,
Kitzis A
1995-05-19
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Institute
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Laboratoire de Génétique Cellulaire et Moléculaire
Poitiers, France
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Submitted Phenotype Details
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One patient (male, 65) diagnosed at 58, has normal sweat chloride, moderate lung disease with tuberculosis, bronchietasis and Pseudomonas Aeruginosa colonization. Unknown other mutation (pers. corr. Chomel)
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Reference
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Chomel & Kitzis (NL#66)
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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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