Mutation Details for c.2522C>G
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cDNA Name
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c.2522C>G
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Protein Name
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p.Pro841Arg
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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P841R
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Other Details
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The P841R mutation was detected in the CFTR gene by DGGE and identified by direct sequencing. This mutation has been found in an infertile man with CBAVD carrying the R74W+D1270N mutations on the other allele
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Contributors
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Kitzis A.,Chomel J-C.,Baudis M., Crevaux I.
2000-12-21
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Institute
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Laboratoire de Génétique Cellulaire et Moléculaire, CHU de Poitiers, France
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Submitted Phenotype Details
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the mutation was found in a male patient (35 years old) with CBAVD, carrying R74W and D1270N on the other allele.
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Reference
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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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