Mutation Details for c.836_838delAAG
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cDNA Name
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c.836_838delAAG
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Protein Name
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p.Glu279del
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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E278del
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Other Details
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This mutation was detected by SSCA and direct sequencing.
E278del (old nomenclature: [delta]E278) was identified in a Spanish CF carrier mother.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Nunes V,
Estivill X
1998-01-08
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Institute
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IRO
Barcelona,
Spain
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Submitted Phenotype Details
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The mutation was found on the maternal chromosome of a male CF patient who died, after being diagnosed at 4 months of age. He was PI, had sweat chloride 100mmol/l and carried deltaF508 on the other allele. (pers. corr. Casals)
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Reference
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Casals et al. (NL#70)
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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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