Mutation Details for c.2013_2015delAGA
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cDNA Name
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c.2013_2015delAGA
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Protein Name
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p.Glu672del
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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E672del
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Other Details
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This mutation was found by DGGE and identified by direct sequencing in a lebanese family.
It does not modify a RS.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Carles S
1996-10-28
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Institute
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Institut de Biologie Montpelier
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Submitted Phenotype Details
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The 4years old male patient was diagnosed with CF at 4 years of age. He is PI, has sweat chloride 68 mmol/l and no lung involvment. No other CFTR mutation was found. (pers corr. Claustres and Desgeorges et al. 1997)
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Reference
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Claustres et al. (NL#69)
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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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