Mutation Details for c.2589_2599delAATTTGGTGCT
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cDNA Name
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c.2589_2599delAATTTGGTGCT
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Protein Name
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p.Ile864SerfsX28
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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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2721del11
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Other Details
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This mutation is a frameshift deletion mutation of 11 nucleotides in which 5'-AATTTGGTGCT-3' is deleted from nucleotide position 2721 : 2721del11. This mutation was found in 1 out of 61 unrelated Belgian CF chromosomes (13 [delta]F508 and 48 non-[delta]F508 CF chromosomes). It can be detected by means of heteroduplexes.
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1992-04-13
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Institute
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Center for Human Genetics
Leuven, Belgium
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Submitted Phenotype Details
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The mutation was found in a male carrying I336K on the other allele. (pers. corr. De Boeck)
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Reference
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Cuppens et al. 1993
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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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