Mutation Details for c.4_53+69delins299
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.4_53+69delins299
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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CFTRdele1Ins299bp
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Other Details
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This mutation was identified by QMPSF and Quantitative DHPLC. The same complex anomaly was identified by Niel et al. in another French CF patient, unrelated to ours.
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Contributors
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Marie-Pierre AudrŽzet, Jian-Min Chen, Odile RaguŽns, Karine Giteau, CŽdric Le MarŽchal, Isabelle QuŽrŽ, and Claude FŽrec
2004-06-16
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Institute
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GŽnŽtique MolŽculaire, CHU, Brest, FRANCE
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Submitted Phenotype Details
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The complex anomaly was identified in a 6 yrs old girl, heterozygous for F508del. She is PI and has positive ST
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Reference
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Genomic Rearrangements in the CFTR gene : Extensive Allelic Heterogeneity and Diverse Mutational Mechanisms Marie-Pierre AudrŽzet, Jian-Min Chen, Odile RaguŽns, Nadia Chuzhanova, Karine Giteau, CŽdric Le MarŽchal, Isabelle QuŽrŽ, David N. Cooper, and Claude FŽrec. Human Mutation (2004), 23:343-357.
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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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