ABCA4 c.2459A>G ;(p.Q820R)

Variant ID: 1-94520795-T-C

NM_000350.2(ABCA4):c.2459A>G;(p.Q820R)

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:

Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.

Nutrients
Piccardi, Marco M; Fadda, Antonello A; Martelli, Francesco F; Marangoni, Dario D; Magli, Adriano A; Minnella, Angelo M AM; Bertelli, Matteo M; Di Marco, Stefano S; Bisti, Silvia S; Falsini, Benedetto B
Publication Date: 2019-10-15

Variant appearance in text: ABCA4: 2459A>G
PubMed Link: 31618812
Variant Present in the following documents:
  • Main text
  • nutrients-11-02461.pdf
View BVdb publication page