Mutation Details for c.579+3A>C
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cDNA Name
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c.579+3A>C
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Exon or Intron
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intron 5
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Legacy Exon or Intron
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intron 5
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711+3A->C
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Other Details
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The 711+3 A->C mutation was detected in a 64 year old femlae Caucasian Cf patient. This mutation is compunded with another yet unidentified CF allele. The A->C change at this site is predicted to cause abnormal splicing. The diagnosis of Cystic Fibrosis in the patient is based on the history of Bronchiectasis and Pseudomonas bronchitis, together with chronic sinusitis and nasal polyposis. The chest X-ray findings were also typical for CF. She is pancreatic sufficient nad has an excellent nutritional status. Her sweat concentration is 85 mM.
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Contributors
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Macek MJr
Mackova A,
Sedriks SE,
Cutting GR
1994-03-15
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The CF patient was PS, sweat chloride 85 mmol/l, has chronic lung disease and sinusitis and nasal polyposis.
(pers.corr.Macek)
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Reference
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Macek MJr et al. (NL#61)
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