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.1022_1023insTC p.Phe342HisfsX28 1154insTC exon 8 insertion of TC after 1154 frameshift
c.3063_3068delAGTGAT p.Ile1023_Val1024del 3195del6 exon 19 deletion of AGTGAT from 3195 to 3200 deletion of Val1022 and Ile1023
c.3067_3072delATAGTG p.Ile1023_Val1024del 3199del6 exon 19 deletion of ATAGTG from 3199 deletion of Ile at 1023 and Val at 1024
c.3068T>C p.Ile1023Thr I1023T exon 19 3200T>C
c.3068_3072delTAGTG p.Ile1023SerfsX22 3200_3204delTAGTG exon 19 Deletion of TAGTG from 3200 Frameshift




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