Mutation Details for c.574G>A
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cDNA Name
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c.574G>A
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Protein Name
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p.Asp192Asn
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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D192N
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Other Details
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It creates a Msel restriction site in the DNA sequence. The mutation was found in an adult CF patient who has pulmonary infections since childhood. The patient is [delta]F508 heterozygous.
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Contributors
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Costes B,
Ghanem N,
Girodon E,
Goossens M
1994-04-18
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Institute
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Unites de Recherches en Genetique Moleculaireet en Hematologie
Creteil, France
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Submitted Phenotype Details
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D192N was found in a 44y female patient also carrying deltaF508 on the other allele. She was diagnosed at 2y, is PS, has moderate pulmonary symptoms and borderline sweat chloride. She was also diagnosed with disseminated bronchiectasis. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#62)
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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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