ABCA4 c.4437G>A ;(p.W1479*)

Variant ID: 1-94495103-C-T

NM_000350.2(ABCA4):c.4437G>A;(p.W1479*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology
Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S
Publication Date: 2023

Variant appearance in text: ABCA4: 4437G>A
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



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: 4437G>A; Trp1479*
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
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: W1479X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: ABCA4: W1479*
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page



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: 4437G>A
PubMed Link: 31618812
Variant Present in the following documents:
  • Main text
  • nutrients-11-02461.pdf
View BVdb publication page



Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology
Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B
Publication Date: 2017

Variant appearance in text: STGD1: Trp1479X
PubMed Link: 28912967
Variant Present in the following documents:
  • Main text
  • JOPH2017-3643495.pdf
View BVdb publication page



Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Verdina, Tommaso T; Greenstein, Vivienne C VC; Sodi, Andrea A; Tsang, Stephen H SH; Burke, Tomas R TR; Passerini, Ilaria I; Allikmets, Rando R; Virgili, Gianni G; Cavallini, Gian Maria GM; Rizzo, Stanislao S
Publication Date: 2017-07

Variant appearance in text: ABCA4: 4437G>A
PubMed Link: 28365912
Variant Present in the following documents:
  • Main text
View BVdb publication page