ABCA4 c.6357A>G ;(p.E2119=)

Variant ID: 1-94466587-T-C

NM_000350.2(ABCA4):c.6357A>G;(p.E2119=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

Bmc Ophthalmology
Grassmann, Felix F; Bergholz, Richard R; Mändl, Julia J; Jägle, Herbert H; Ruether, Klaus K; Weber, Bernhard H F BH
Publication Date: 2015-03-06

Variant appearance in text: ABCA4: E2119E
PubMed Link: 25884411
Variant Present in the following documents:
  • Main text
  • 12886_2015_Article_8.pdf
View BVdb publication page