ABCA4 c.5380G>C ;(p.A1794P)

Variant ID: 1-94480179-C-G

NM_000350.2(ABCA4):c.5380G>C;(p.A1794P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences
Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS
Publication Date: 2020-12-27

Variant appearance in text: ABCA4: A1794P
PubMed Link: 33375396
Variant Present in the following documents:
  • Main text
  • ijms-22-00185.pdf
View BVdb publication page



Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

Investigative Ophthalmology & Visual Science
Garces, Fabian F; Jiang, Kailun K; Molday, Laurie L LL; Stöhr, Heidi H; Weber, Bernhard H BH; Lyons, Christopher J CJ; Maberley, David D; Molday, Robert S RS
Publication Date: 2018-05-01

Variant appearance in text: STGD1: 5380G>C
PubMed Link: 29847635
Variant Present in the following documents:
  • Main text
  • i1552-5783-59-6-2305.pdf
View BVdb publication page