Mutation Details for c.1650delA
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cDNA Name
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c.1650delA
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Protein Name
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p.Gly551ValfsX8
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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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1782delA
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Other Details
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This mutation is a frameshift 1782delA in exon 11 introducing a terminator codon (UAG) at amino acid position 558. This deletion jas been identified on the maternal CF chromosome in a PI patient originating from Northern Italy (Lombardy) and bearing the [delta]F508 on the other chromosome.
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Contributors
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Ferrari M,
Seia M,
Russo S,
Corbetta C
1994-11-22
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Institute
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Istituto di Ricovero e cura a Carattere Scientifico
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Submitted Phenotype Details
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The mutation was found in a 8 years old female patient diagnosed at 1 month of age after meconium ileus, PI, with sweat chloride 82 mmol/l and mild respiratory symptoms. She carries deltaF508 on the other allele. (pers. corr. Cremonesi)
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Reference
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Ferrari et al. (NL#64)
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