ABCA4 c.288C>A ;(p.N96K)

Variant ID: 1-94577008-G-T

NM_000350.2(ABCA4):c.288C>A;(p.N96K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: ABCA4: Asn96Lys
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 288C>A; Asn96Lys; rs886039297
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: 288C>A
PubMed Link: 35156991
Variant Present in the following documents:
  • iovs-63-2-25.pdf
View BVdb publication page



Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology
García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM
Publication Date: 2021

Variant appearance in text: ABCA4: 288C>A
PubMed Link: 34327195
Variant Present in the following documents:
  • Main text
  • fcell-09-645600.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: N96K
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2018-07-27

Variant appearance in text: ABCA4: Asn96Lys
PubMed Link: 30060493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology
Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Orrico, Ada A; Attanasio, Marcella M; Rossi, Settimio S; Simonelli, Francesca F
Publication Date: 2014-12

Variant appearance in text: ABCA4: N96K
PubMed Link: 25097154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Fishman, Gerald A GA; Zernant, Jana J; Schubert, Carl C; Tsang, Stephen H SH; Smith, R Theodore RT; Ayyagari, Radha R; Koenekoop, Robert K RK; Umfress, Allison A; Ciccarelli, Maria Laura ML; Baldi, Alfonso A; Iannaccone, Alessandro A; Cremers, Frans P M FP; Klaver, Caroline C W CC; Allikmets, Rando R
Publication Date: 2012-07-03

Variant appearance in text: ABCA4: N96K
PubMed Link: 22661473
Variant Present in the following documents:
  • Main text
View BVdb publication page