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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CFTRdele1
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Other Details
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The anomaly is inherited from the father, who is from northeastern Italy. The same complex anomaly was identified by AudrŽzet et al. in another French CF patient, who is apparently unrelated to ours.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2004-01-21
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Institute
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Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France
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Submitted Phenotype Details
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The complex anomaly was identified in a 10 yrs old boy, diagnosed with CF at 1 month and heterozygous for F508del. He is PI and presents with a severe pulmonary phenotype. He has a positive ST (Cl-:114 mEq/l).
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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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