Mutation Details for c.1584+51_1584_61dup11
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cDNA Name
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c.1584+51_1584_61dup11
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Exon or Intron
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intron 11
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Legacy Exon or Intron
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intron 10
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dup1716+51->61
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Other Details
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The 5' end sequence of intron 10 of a dup1716+(51->61) allele is the following one:
5'-GTAAGAAACTATGTGAAAACTTTTTGATTATGCATATGAACCCTTCACAC
TACCCAAATTATACCCAAATTATATATTTGGCTCCATATTC-3'
The mutation was found in 3 out of 272 random Algerian chromosomes. It was not found in 66 Belgian CF chromosomes,nor in 62 Belgian normal chromosomes. At this moment we have no reasons to believe that this mutation is a disease mutation. The mutation can be detected by means of heteroduplex formation.
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Contributors
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Cuppens H,
Loumi O,
Marynen P,
Cassiman JJ
1991-07-31
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Institute
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Universitiare Ziekenhuizen
Leuven, Belgium
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Submitted Phenotype Details
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dup1716+51->61 was observed in 3 random Algerian individuals (likely a polymorphism): Cuppens et al. 1992. and pers. corr. Cuppens
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Reference
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Cuppens et al. 1992
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