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.

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  • 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.350G>A p.Arg117His R117H exon 4 G to A at 482 Arg to His at 117
c.794T>G p.Met265Arg M265R exon 7 T to G at 926 Met to Arg at 265
c.1210-2_1210-1delAG 1342- 2delAG intron 9 deletion of AG from 1342- 2 mRNA splicing defect
c.1210-2A>C 1342- 2A- >C intron 9 A to C at 1342- 2 mRNA splicing defect
c.1210-1delG 1342- 1delG intron 9 Deletion of G at 1342- 1 Frameshift
c.1210-1G>C 1342- 1G- >C intron 9 G to C at 1342- 1 mRNA splicing defect
c.1210-13G>T 1342- 13G/T intron 9 G or T at 1342- 13 sequence variation
c.1210-12T[5_9] poly- T tract variations intron 9 variable number (5T, 7T, 9T) of thymidines at the poly- T tract starting at position 1342- 6 sequence variation (3 variants of which IVS8-5T is affecting splicing of exon 9)
c.1210-11T>G 1342- 11TTT- >G intron 9 TTT to G at 1342- 11 mRNA splicing defect?
c.1521_1523delCTT p.Phe508del [delta]F508 exon 11 deletion of 3 bp between 1652 and 1655 deletion of Phe at 508
c.1652G>A p.Gly551Asp G551D exon 12 G to A at 1784 Gly to Asp at 551
c.1666A>G p.Ile556Val I556V exon 12 A to G at 1798 Ile to Val at 556 (mutation?)
c.1981delA p.Ile661SerfsX2 2113delA exon 14 deletion of A at 2113 frameshift
c.1981delA p.Ile661SerfsX2 2113delA exon 14 deletion of A at 2113 frameshift
c.2619G>A 2751G- >A exon 15 G to A at 2751 mRNA splicing defect?
c.2619+3A>G 2751+ 3A- >G intron 15 A to G at 2751+ 3 mRNA splicing defect? (CBAVD)
c.2619+18_2619+23del IVS14a+ 17del5 intron 15 5 bp deletion between 2751+ 17 and 2751+ 24 sequence variation
c.2619+2T>A 2751+ 2T- >A intron 15 T to A at 2751+ 2 mRNA splicing defect
c.2620-17G>A 2752- 17G/A intron 15 G to A at 2752- 17 sequence variation
c.2620-6T>C 2752- 6T- >C intron 15 T to C at 2752- 6 Splicing
c.2620-26A>G 2752- 26A- >G intron 15 A to G at 2752- 26 mRNA splicing defect?
c.2620-1G>T 2752- 1G- >T intron 15 G to T at 2752- 1 mRNA splicing defect
c.2620-15C>G 2752- 15C/G intron 15 C or G at 2752- 15 sequence variation
c.2620-2A>G 2752- 2A>G intron 15 A to G at 2752- 2 mRNA splicing defect
c.2620-1G>C 2752- 1G- >C intron 15 G to C at 2752- 1 splice mutation
c.2620-22A>G 2752- 22A/G intron 15 A or G at 2752- 22 sequence variation
c.2620-97C>T 2752- 97C- >T intron 15 C to T at 2752- 97 Splicing
c.2620-17g>T intron 15
c.2620-25dupA 2752- 33insA intron 15 2752- 33insA
c.2620-18delT intron 15
c.4140delA p.Tyr1381ThrfsX3 4272delA exon 26 Deletion of nucleotide A at 4272 position Frameshift
c.4141T>C p.Tyr1381His Y1381H exon 26 T to C at 4273 Tyr to His at 1381
c.4141T>C p.Tyr1381His Y1381H exon 26 T to C at 4273 Tyr to His at 1381
c.4143C>A p.Tyr1381X Y1381X exon 26 C to A at 4275 Tyr to Stop at 1381
c.4143C>A p.Tyr1381X Y1381X exon 26 C to A at 4275 Tyr to Stop at 1381
c.2620-674_3367+198del 2752- 674_3499+ 198del9855 exon 16 - exon 20 2752- 674_3499+ 198del9855bp Large deletion removing exons 14b to 17b. Frameshift




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The Database was last updated at Apr 25, 2011