Mutation Details for c.(?_54)_(164_?)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.(?_54)_(164_?)del
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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CFTRdele2
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Other Details
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The CFTRdele2 mutation was found in a homozygous Turkish CF patient. Please see CFTRdele2,3 and CFTR25kbdel.
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Contributors
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Mekus F,
Tummler B
1996-03-27
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Institute
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Medizinische Hochschule,
Hannover, Germany
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Submitted Phenotype Details
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The homozygous male patient (16 years) was diagnosed at 4 months of age, is PI, has mild lung disease (FEV1 114%) and sweat chloride 102 mmol/l.
(pers. corr. Doerk)
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Reference
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Mekus and Tümmler (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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