Mutation Details for c.2620-15C>G

cDNA Name c.2620-15C>G 
Exon or Intron intron 15 
Legacy Exon or Intron intron 14a 
Legacy Name 2752-15C/G 
Other Details The sequence variant 2752-15 C->G is located within the branch/acceptor splice site preceding exon 14b. This transversion was associated with the previously reported mutation K68N on the same allele in a single CF family of Turkish/Syrian descent. following info was added at Nov 10, 2004 by Martin J Schwarz PhD MRCPath Head of Molecular Genetics Laboratory Royal Manchester Children's Hospital Hospital Road Manchester M27 4HA England Tel: +44 (0) 161 727 2567 Fax: +44 (0) 161 727 2328 I would like to add further evidence to Thilo Doerk's submission that the 2752-15C>G sequence variant is a (probably) benign polymorphism. We have seen it in a man of Turkish/Egyptian origin who has W1089X and 2752-15C>G in trans. [He has a child who has F508del and W1089X, but who does not have the 2752-15C>G]. This suggests that the 2752-15C>G variant has no phenotypic effect and does not interfere with fertility.  
Contributors Dork T, Schmidt K, Tummler B   1994-04-07
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details  
Reference Dörk et al. (NL#62) 

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The Database was last updated at Apr 25, 2011