ABCA4 c.1656A>C ;(p.V552=)

Variant ID: 1-94528772-T-G

NM_000350.2(ABCA4):c.1656A>C;(p.V552=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: Val552Val
PubMed Link: 29847635
Variant Present in the following documents:
  • Main text
  • i1552-5783-59-6-2305.pdf
View BVdb publication page