Mutation Details for c.1766+1G>A
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cDNA Name
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c.1766+1G>A
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Exon or Intron
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intron 13
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Legacy Exon or Intron
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intron 12
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1898+1G->A
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Other Details
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This mutation was found in two unrelated patients, both of whom carry the F mutation on their other chromosome. This mutation was not found in 110 non-[delta]F CF chromosomes, nor in 75 [delta]F CF chromosomes.
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Contributors
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Strong T,
Smit L,
Cole J,
Iannuzzi M,
Tsui LC,
Collins F
1991-02-01
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Institute
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Howard Hughes Medical Institute Research Laboratories
Ann Arbor, MI, USA
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Phenotype Information
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CFTR2
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Reference
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Strong et al. 1992
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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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