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ABCA4 c.6446G>T ;(p.R2149L)
Variant ID: 1-94466425-C-A
NM_000350.2(
ABCA4
):c.6446G>T;(p.R2149L)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Scientific Reports
Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M
Publication Date: 2022-03-08
Variant appearance in text: ABCA4: 6446G>T; Arg2149Leu; rs61750655
PubMed Link:
35260635
Variant Present in the following documents:
41598_2022_7618_MOESM1_ESM.pdf
View BVdb publication page
Choroidal Caverns in Stargardt Disease.
Investigative Ophthalmology & Visual Science
Mucciolo, Dario Pasquale DP; Giorgio, Dario D; Lippera, Myrta M; Dattilo, Valeria V; Passerini, Ilaria I; Pelo, Elisabetta E; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F; Murro, Vittoria V
Publication Date: 2022-02-01
Variant appearance in text: ABCA4: 6446G>T
PubMed Link:
35156991
Variant Present in the following documents:
Main text
iovs-63-2-25.pdf
View BVdb publication page
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01
Variant appearance in text: ABCA4: R2149L
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: CORD3: R2149L
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: ABCA4: R2149L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page