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ABCA4 c.1553A>C ;(p.E518A)
Variant ID: 1-94543247-T-G
NM_000350.2(
ABCA4
):c.1553A>C;(p.E518A)
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:
Evaluation of Local Rod and Cone Function in Stargardt Disease.
Investigative Ophthalmology & Visual Science
Stingl, Krunoslav K; Hoyng, Carel C; Kempf, Melanie M; Kohl, Susanne S; Jung, Ronja R; Righetti, Giulia G; Kühlewein, Laura L; Pohl, Lisa L; Kortüm, Friederike F; Kelbsch, Carina C; Wilhelm, Barbara B; Peters, Tobias T; Stingl, Katarina K; ,
Publication Date: 2022-03-02
Variant appearance in text: ABCA4: 1553A>C
PubMed Link:
35262734
Variant Present in the following documents:
Main text
iovs-63-3-6.pdf
View BVdb publication page