USH2A c.15063_15081delinsGC ;(p.T5022Qfs*150)

Variant ID: 1-215808017-CTTTTTCCCAGGAGTTGTT-GC

NM_206933.2(USH2A):c.15063_15081delinsGC;(p.T5022Qfs*150)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Hgg Advances
Reurink, Janine J; Weisschuh, Nicole N; Garanto, Alejandro A; Dockery, Adrian A; van den Born, L Ingeborgh LI; Fajardy, Isabelle I; Haer-Wigman, Lonneke L; Kohl, Susanne S; Wissinger, Bernd B; Farrar, G Jane GJ; Ben-Yosef, Tamar T; Pfiffner, Fatma Kivrak FK; Berger, Wolfgang W; Weener, Marianna E ME; Dudakova, Lubica L; Liskova, Petra P; Sharon, Dror D; Salameh, Manar M; Offenheim, Ashley A; Heon, Elise E; Girotto, Giorgia G; Gasparini, Paolo P; Morgan, Anna A; Bergen, Arthur A AA; Ten Brink, Jacoline B JB; Klaver, Caroline C W CCW; Tranebjærg, Lisbeth L; Rendtorff, Nanna D ND; Vermeer, Sascha S; Smits, Jeroen J JJ; Pennings, Ronald J E RJE; Aben, Marco M; Oostrik, Jaap J; Astuti, Galuh D N GDN; Corominas Galbany, Jordi J; Kroes, Hester Y HY; Phan, Milan M; van Zelst-Stams, Wendy A G WAG; Thiadens, Alberta A H J AAHJ; Verheij, Joke B G M JBGM; van Schooneveld, Mary J MJ; de Bruijn, Suzanne E SE; Li, Catherina H Z CHZ; Hoyng, Carel B CB; Gilissen, Christian C; Vissers, Lisenka E L M LELM; Cremers, Frans P M FPM; Kremer, Hannie H; van Wijk, Erwin E; Roosing, Susanne S
Publication Date: 2023-04-13

Variant appearance in text: USH2A: 15063_15081delinsGC
PubMed Link: 36785559
Variant Present in the following documents:
  • Main text
  • mmc4.pdf
  • main.pdf
View BVdb publication page



Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Investigative Ophthalmology & Visual Science
Zein, Wadih M WM; Falsini, Benedetto B; Tsilou, Ekaterina T ET; Turriff, Amy E AE; Schultz, Julie M JM; Friedman, Thomas B TB; Brewer, Carmen C CC; Zalewski, Christopher K CK; King, Kelly A KA; Muskett, Julie A JA; Rehman, Atteeq U AU; Morell, Robert J RJ; Griffith, Andrew J AJ; Sieving, Paul A PA
Publication Date: 2014-11-25

Variant appearance in text: USH2: 15063_15081del19insGC
PubMed Link: 25425308
Variant Present in the following documents:
  • Main text
View BVdb publication page