Mutation Details for c.1210-13G>T

cDNA Name c.1210-13G>T 
Exon or Intron intron 9 
Legacy Exon or Intron intron 8 
Legacy Name 1342-13G/T 
Other Details The 1342-13G->T polymorphism in intron 8 was found in 12 out of 30 unrelated Belgian CF chromosomes. This polymoporphic nucleotide is localized in the last repeat of the (GT)12 dinucleotide repeat locus. Update: In the list 'DNA sequence polymorphisms in the noncoding regions of the CFTR gene', 1342-13G/T was described in intron 8. This is in fact the allele resulting in T9, compared to the published sequence which is a T7 allele. At that moment the nomenclature T5, T7 and T9 for the Tn did then not exist. (pers. corr. Cuppens)  
Contributors Cassiman JJ, Cuppens H, Marynee P   1992-03-04
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details This is the T9 allele of the polymorphic Tn locus at the end of intron 8. No additional clinical data available. (pers. corr. Cuppens) 
Reference Cassiman et al. (NL#43) 

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The Database was last updated at Apr 25, 2011