Mutation Details for c.264_268delATATT
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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.264_268delATATT
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Protein Name
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p.Leu88PhefsX21
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Exon or Intron
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exon 3
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Other Details
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Contributors and Institutes
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| N.V.Petrova, T.A.Vasilyeva, Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Russian Academy of Medical Scienses | - | |
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Submitted Phenotype Details
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This mutation was first detected by heteroduplexes on PAGE, the identified by direct sequencing. This 5-bp deletion leads to a chain termination codon downstream in exon 4. It was present in one CF chromosome only, in a patient,female 6 months old, from Moscow, Russia (2000 CF chromosomes analyzed).
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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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