Mutation Details for c.305T>C
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cDNA Name
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c.305T>C
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Protein Name
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p.Leu102Pro
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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L102P
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Other Details
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The L102P mutation was detected in the CFTR gene by DGGE and identified by direct sequencing. This mutation has been found in a child with severe CF. The other allele carries a R553X mutation.
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Contributors
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Baudis M., Gambert C.,Kitzis A.
2001-05-21
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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 identified in a female patient (6 years old) diagnosed at 4 with severe CF. She carries R553X 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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