Mutation Details for c.2562delT
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cDNA Name
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c.2562delT
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Protein Name
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p.Val855SerfsX5
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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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2694delT
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Other Details
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The mutation was detected by DGGE analysis and direct sequencing. The mutation was found in a patient affected with cystic fibrosis with the following genotype : Y517C/2694delT. The 2694delT mutation was inherited from the mother and the Y517C from the father. The mutation creates a site for TaiI.
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Contributors
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Arduino C,
Salmin P,
Brusco A,
Gerbino G,
Migone N
2000-12-21
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Institute
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U.O. Genetica
Medica,
Torino, Italy
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Submitted Phenotype Details
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The 8-year old female patient was diagnosed with CF at birth with meconium ileus. She is PI and has sweat chloride 93 mmol/l. (pers. corr. Arduino)
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Reference
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Arduino et al. 2000
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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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