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ABCA4 c.746A>G ;(p.D249G)
Variant ID: 1-94564372-T-C
NM_000350.2(
ABCA4
):c.746A>G;(p.D249G)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.
Investigative Ophthalmology & Visual Science
Fars, Julien J; Pasutto, Francesca F; Kremers, Jan J; Huchzermeyer, Cord C
Publication Date: 2021-11-01
Variant appearance in text: STGD1: 746A>G; rs62646865
PubMed Link:
34807235
Variant Present in the following documents:
Main text
iovs-62-14-24.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: D249G
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: STGD1: D249G
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: D249G
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page