Mutation Details for c.(?_2989)_(3468_?)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.(?_2989)_(3468_?)del
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Exon or Intron
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exon 19 - exon 21
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Legacy Exon or Intron
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exon 17a - exon 18
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Del exon 17a-17b-18
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Other Details
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The large deletion was inherited from the father. The proband harbors also the dF508 mutation, which she inherited from the mother
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Contributors
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Hantash FM, Redman JB. et al. Abs. Ann. Mtg ASHG. Toronto 2004. # 2660.
2005-02-10
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Institute
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Quest Diagnostics Nichols Institute. San Juan Capistrano, CA.
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Submitted Phenotype Details
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Two y.o. girl
Caucasian Parents
Classic CF symptoms.
Sweat Chloride tests: not provided.
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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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