Mutation Details for c.182T>C
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cDNA Name
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c.182T>C
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Protein Name
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p.Leu61Pro
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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L61P
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Other Details
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This mutation was identified on one Hispanic CF chromosome
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Contributors
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Stark JM, Jon C, Schecter M, Colasurdo GN
2005-04-15
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Institute
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University of Texas Health Science Center - Houston
Department of Pediatrics, Division of Pulmonary and Critical Care Medicine
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Submitted Phenotype Details
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9 y/o Hispanic boy with history of asthma since 1 year of age. Sweat Chloride 87 and 85. Repeat sweat chloride 82 and 65. CT chest without bronchiectasis. No symptoms of pancreatic insufficiency.
Other mutation ? R117C (C to T at position 481 in exon 4)
Other polymorphyisms ? M470V in exon 10 ( Methionine to valine at position 470) and 2694 T>G in exon 14a (no AA change at position 854).
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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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