ABCA4 c.2692G>T ;(p.E898*)

Variant ID: 1-94514475-C-A

NM_000350.2(ABCA4):c.2692G>T;(p.E898*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Reich, Michael M; Lübke, Jan J; Joachimsen, Lutz L; Stifter, Julia J; Küchlin, Sebastian S; Böhringer, Daniel D; Lange, Clemens C; Lagrèze, Wolf A WA
Publication Date: 2021-06

Variant appearance in text: STGD: 2692G>T
PubMed Link: 33185728
Variant Present in the following documents:
  • Main text
  • 417_2020_Article_4992.pdf
View BVdb publication page



Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.

Bmj Open Ophthalmology
Reich, Michael M; Glatz, Andreas A; Cakir, Bertan B; Böhringer, Daniel D; Lang, Stefan S; Küchlin, Sebastian S; Joachimsen, Lutz L; Lagreze, Wolf W; Agostini, Hansjuergen T HT; Lange, Clemens C
Publication Date: 2019

Variant appearance in text: STGD: 2692G>T
PubMed Link: 31799409
Variant Present in the following documents:
  • Main text
  • bmjophth-2019-000318.pdf
View BVdb publication page



Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Publication Date: 2017-01-01

Variant appearance in text: STGD: 2692G>T
PubMed Link: 28118664
Variant Present in the following documents:
  • iovs-57-15-69_s05.pdf
  • iovs-57-15-69_s04.pdf
View BVdb publication page