Mutation Details for c.1652delG
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cDNA Name
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c.1652delG
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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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1784delG
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Other Details
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This mutation is associated with the haplotype C and was found on one of 110 non-[delta]F508 Italian CF chromosomes. It was not found on 45 non-[delta]F508 CF French chromosomes. The mutation abolishes a MnII site.
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Contributors
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Goossens M,
Fanen P,
Vidaud M
Ferrari M,
Cremonesi L
1990-09-19
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
Istituto di Ricovero e Cura a Carattere Scientifico
Milano, Italy
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Submitted Phenotype Details
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The mutation was found in a female patient when 22 years old, diagnosed with CF at 7 months of age, who died at age 27. She was PI, has sweat chloride 124 mmol/l, severe lung disease and severe malnutrition. She carried R553X on the other allele. (pers. corr. Cremonesi)
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Reference
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Ferrari et al. 1991
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