Mutation Details for c.147A>G
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cDNA Name
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c.147A>G
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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279A/G
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Other Details
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We would like to report to the consortium one novel mutation located in exon 20 of the CFTR gene and one novel sequence variation located in exon 2 of the CFTR gene. The missense mutation was detected by DGGE and identified by direct sequencing. The mutation S1255L (C->T at 3896) is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. Two other CF mutations have been identified at the same codon
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Contributors
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Bienvenu T,
Bousquet S,
Beldjord C
1996-12-12
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Institute
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Laboratoire de Biochimie et Génétique Moléculaire
Paris, France
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Submitted Phenotype Details
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Reference
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Bienvenu et al. (NL#69)
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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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