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Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
Mouse CFTR Genomic Sequence
Frequently Asked Questions
Mutation Details for c.489+23c>G
Note: this mutation was submitted but not yet reviewed by our curator.
Exon or Intron
The CFTR change was detected by direct Sequencing once on 94 DB chromosomes. It was not detected in 100 CF and 94 normal chromosomes.
Contributors and Institutes
Bergougnoux A., Taulan-Cadars M., Claustres M., Raynal C.
Laboratoire de Génétique Moléculaire, IURC
641 avenue du Doyen Gaston Giraud
34093 Montpellier Cedex 5
Submitted Phenotype Details
This probable polymorphisme was identified in a patient with diffuse bronchiectasis (DB). No variant was detected in the second allele.
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The Database was last updated at Apr 25, 2011