Mutation Details for c.2735C>T
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cDNA Name
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c.2735C>T
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Protein Name
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p.Ser912Leu
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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S912L
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Other Details
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The nucleotide change C->T at position 2876 in exon 15 results in a replacement of a serine for leucine at position 912.
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Contributors
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Ghanem N
Goossens M
1994-11-22
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Institute
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Unite de Recherches et Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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One patient (male, 10y) diagnosed at 2 months, is PI, has severe chronic lung disease, sweat chloride 92-104 mmol/l. The patient carries G1244V on the same allele as S912L and G542X on the other. 4 additional patients. (pers. corr. Savov)
The S912L was found in a 46year-old female with 2 siblings dead of CF. One other patient R709X/S912L, asymptomatic -> S912L considered as a polymorphism. (pers. corr. Girodon)
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Reference
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Ghanem et al. 1994
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