ABCA4 c.6729+5_6729+19del

Variant ID: 1-94463397-GTGCCCCAGGGCCAAC-G

NM_000350.2(ABCA4):c.6729+5_6729+19del

This variant was identified in 11 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: 6729+5_6729+19del
PubMed Link: 36819107
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics
Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST
Publication Date: 2023-02-06

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 36747048
Variant Present in the following documents:
  • 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Translational Vision Science & Technology
Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG
Publication Date: 2022-09-01

Variant appearance in text: ABCA4: 6729+4_6729+18del
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome.

The British Journal Of Ophthalmology
Jones, Lee L; Moosajee, Mariya M
Publication Date: 2021-11

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 32933935
Variant Present in the following documents:
  • Main text
  • bjophthalmol-2020-317237.pdf
View BVdb publication page



The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Méjécase, Cécile C; Kozak, Igor I; Moosajee, Mariya M
Publication Date: 2020-09

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 32783370
Variant Present in the following documents:
  • Main text
  • AJMG-184-762.pdf
View BVdb publication page



Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Investigative Ophthalmology & Visual Science
Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH
Publication Date: 2020-04-09

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 32298433
Variant Present in the following documents:
  • iovs-61-4-13_s001.pdf
View BVdb publication page



ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Research
Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Publication Date: 2018-01

Variant appearance in text: STGD1: 6729+5_6729+19del
PubMed Link: 29162642
Variant Present in the following documents:
  • Main text
  • supp_gr.226621.117_Supplemental_Fig_S2_.pdf
  • supp_gr.226621.117_Supplemental_Table_S2.pdf
  • supp_gr.226621.117_Supplemental_Figures_and_Tables_Legends.pdf
  • 100.pdf
  • supp_gr.226621.117_Supplemental_Table_S4_.pdf
View BVdb publication page



Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Plos One
Lambertus, Stanley S; Bax, Nathalie M NM; Fakin, Ana A; Groenewoud, Joannes M M JM; Klevering, B Jeroen BJ; Moore, Anthony T AT; Michaelides, Michel M; Webster, Andrew R AR; van der Wilt, Gert Jan GJ; Hoyng, Carel B CB
Publication Date: 2017

Variant appearance in text: ABCA4: 6729+4_6729+18del
PubMed Link: 28355279
Variant Present in the following documents:
  • Main text
  • pone.0174020.pdf
View BVdb publication page



Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 28327576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

European Journal Of Human Genetics : Ejhg
Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG
Publication Date: 2017-05

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 28224992
Variant Present in the following documents:
  • ejhg20179x6.xlsx, sheet 1
View BVdb publication page



Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA
Publication Date: 2015-04

Variant appearance in text: ABCA4: 6729+5_6729+19del
PubMed Link: 25412400
Variant Present in the following documents:
  • NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1
View BVdb publication page