Mutation Details for c.(?_1767)_(2490_?)del
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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.(?_1767)_(2490_?)del
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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CFTRdele14a
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Other Details
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The above mutation was found in a homozygous patient from a Persian family. The patient has pancreatic insufficiency, elevated sweat cholride concentrations, and pulmonary disease.
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Contributors
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Egan M,
Macek M Jr,
Cutting G R
1996-01-11
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Institute
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John Hopkins University,
Baltimore, USA
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Submitted Phenotype Details
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Reference
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Egan et al. (NL#68)
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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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