Mutation Details for c.3779T>G
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cDNA Name
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c.3779T>G
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Protein Name
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p.Leu1260Arg
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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L1260R
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Other Details
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Contributors
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Seia M.,Padoan R.
2002-01-01
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Institute
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Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Università degli Studi, Italy
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Submitted Phenotype Details
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The mutation was identified in a patient (female, 26 years old) diagnosed at 2years and 6months of age. She is PI, has milf pulmonary symptoms (FEV1 113%) and sweat chloride 97 mmol/l. She carries deltaF508 on the other allele. (pers.corr. Padoan)
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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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