Mutation Details for c.1210-12T[5_9]

cDNA Name c.1210-12T[5_9] 
Exon or Intron intron 9 
Legacy Exon or Intron intron 8 
Legacy Name poly-T tract variations 
Other Details The polymorphism was reported in the literature directly. There was no corresponding newsletter.  
Contributors    1992-09-01
Institute  
Phenotype Information CFTR2
Reference Chu et al. 1992 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG.   Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.   1992 009;90(3):785-90
  • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG.   Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.   1993 002;3(2):151-6




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011