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.2052A>G 2184A/G exon 14 A to G at 2184 no change
c.2052_2053insA p.Gln685ThrfsX4 2184insA exon 14 insertion of A after 2184 frameshift
c.2052delA p.Lys684AsnfsX38 2184delA exon 14 deletion of A at 2184 frameshift




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