Mutation Details for c.2908G>C
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cDNA Name
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c.2908G>C
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Protein Name
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p.Gly970Arg
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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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G970R
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Other Details
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The G970R mutation (G->C at nucleotide position 3040) in exon 15 was found in 1 out of 34 unrelated Belgian CF chromosomes (7 [delta]F508 and 27 non-[delta]F508 CF chromosomes).
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1992-04-07
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Institute
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Center for Human Genetics
Leuven, Belgium
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Phenotype Information
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CFTR2
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Reference
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Cuppens et al. 1993
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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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