APC c.41_42del ;(p.E14Gfs*16)

Variant ID: 5-112090626-TGA-T

NM_000038.5(APC):c.41_42del;(p.E14Gfs*16)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: APC: 41_42delAG
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page



Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Nature Medicine
Wein, Nicolas N; Vulin, Adeline A; Falzarano, Maria S MS; Szigyarto, Christina Al-Khalili CA; Maiti, Baijayanta B; Findlay, Andrew A; Heller, Kristin N KN; Uhlén, Mathias M; Bakthavachalu, Baskar B; Messina, Sonia S; Vita, Giuseppe G; Passarelli, Chiara C; Brioschi, Simona S; Bovolenta, Matteo M; Neri, Marcella M; Gualandi, Francesca F; Wilton, Steve D SD; Rodino-Klapac, Louise R LR; Yang, Lin L; Dunn, Diane M DM; Schoenberg, Daniel R DR; Weiss, Robert B RB; Howard, Michael T MT; Ferlini, Alessandra A; Flanigan, Kevin M KM
Publication Date: 2014-09

Variant appearance in text: APC: 40_41delGA
PubMed Link: 25108525
Variant Present in the following documents:
  • Main text
  • nihms602834.pdf
View BVdb publication page