Mutation Details for c.3683A>G
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cDNA Name
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c.3683A>G
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Protein Name
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p.Glu1228Gly
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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E1228G
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Other Details
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This mutation was found by DGGE and identified by DNA sequencing. It was found in a Turkish patient; mutation on the other CF chromosome remains unidentified.
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Contributors
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Kilinc O,
Dagli E,
Tolun A
2000-02-08
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Institute
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Department of Molecular Biology and Genetics
Bogazici University,
Istanbul, Turkey
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Submitted Phenotype Details
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The patient (9,male) was diagnosed at 1 month, is PS, sweat chloride is <60 mmol/l, has severe lung disease, bronchiectasis and carries an unidentified mutation on the other allele.
(pers. corr. Kilinc)
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Reference
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Kilinc et al. 2000
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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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