BASIC TEXT SEARCH Select your search field from the pull-down menu, enter your search term in the adjacent window and click the "Submit Query" button. The "Mutation Names" search will look for a match in cDNA, protein, or legacy name. You can also search all fields by selecting "All Fields". For advanced search click on the "Advanced Search" button below.

Search:


SEARCH TIPS
  • Search is case insensitive.
  • Search term can consist of a whole word or part of a word e.g.
    • Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
    • Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).


cDNA Name Protein Name Legacy Name Region Description Consequence
c.2988G>A 3120G- >A exon 18 G to A at 3120 mRNA splicing defect
c.2988+1G>A 3120+ 1G- >A intron 18 G to A at 3120+ 1 mRNA splicing defect
c.2988+33g>T 3120+ 33G>T intron 18
c.2988+35A>T 3120+ 35 A- >T intron 18 A to T at 3120+ 35 mRNA splicing defect?
c.2988+41delA 3120+ 41delA intron 18 Delete A at 3120+ 41 sequence variation
c.2988+45A>G 3120+ 45A/G intron 18 A or G at 3120+ 45 sequence variation
c.2988+198G>A 3120+ 198G- >A intron 18 G to A at 3120+ 198 Splicing




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