Mutation Details for c.2909-71G>C
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cDNA Name
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c.2909-71G>C
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Exon or Intron
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intron 17
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Legacy Exon or Intron
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intron 15
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3041-71G/C
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Other Details
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This polymorphism destroys a DdeI site. The consortium primers amplifying the 570 bp caryin exon 16 lead after DdeI digestion to the following fragments for the common allel:123 +66+ 360+21 and 189+360+21 for the rare one. The nucleotide change was found:
- once among 74 non-[delta]F508 chromosomes
- twice among 44 normal chromosomes
- 0 among 36 [delta]F508 chromosomes
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Contributors
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Ferec C,
Guillermit H,
Quere I,
Verlingue C
1991-09-02
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was found in a Belgian CF patient. No clinical data available.(pers.corr. Ferec)
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Reference
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Férec et al. (NL#38)
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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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