Mutation Details for c.3443A>G
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cDNA Name
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c.3443A>G
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Protein Name
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p.Asn1148Ser
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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N1148S
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Other Details
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Contributors
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Pasquet M.C., Baudis M., Gambert C., Kitzis A.
2003-12-17
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Institute
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Laboratoire de GŽnŽtique Cellulaire et MolŽculaire, CHU de Poitiers, France
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Submitted Phenotype Details
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The N1148S mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is associated with F508del on the some chromosome. It was diagnosed in a child with severe CF. One allele carries F508del and N1148S, the other one carries G85E.
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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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