Mutation Details for c.2998delA
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cDNA Name
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c.2998delA
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Protein Name
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p.Ile1000LeufsX2
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3130delA
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Other Details
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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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This mutation was identified at the homozygous state in a Turkish neonate who was diagnosed with CF after neonatal screening (elevated IRT and positive sweat test). Her parents are first-cousins and are heterozygous for 3130delA.
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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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