ABCA4 c.5584+6T>C

Variant ID: 1-94476812-A-G

NM_000350.2(ABCA4):c.5584+6T>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: 5584+6T>C
PubMed Link: 36747048
Variant Present in the following documents:
  • 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
Publication Date: 2021-10-18

Variant appearance in text: ABCA4: 5584+6T>C
PubMed Link: 34663891
Variant Present in the following documents:
  • 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress.

International Journal Of Molecular Sciences
Putscher, Elena E; Hecker, Michael M; Fitzner, Brit B; Lorenz, Peter P; Zettl, Uwe Klaus UK
Publication Date: 2021-05-13

Variant appearance in text: ABCA4: 5584+6T>C
PubMed Link: 34068052
Variant Present in the following documents:
  • ijms-22-05154.pdf
View BVdb publication page



Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11

Variant appearance in text: ABCA4: 5584+6T>C
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.pdf
View BVdb publication page



Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports
Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K
Publication Date: 2019-02-04

Variant appearance in text: ABCA4: 5584+6T>C
PubMed Link: 30718709
Variant Present in the following documents:
  • 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
Publication Date: 2019-03

Variant appearance in text: ABCR: 5584+6T>C
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
  • bjophthalmol-2018-312064supp004.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: 5584+6T>C
PubMed Link: 29162642
Variant Present in the following documents:
  • supp_gr.226621.117_Supplemental_Fig_S2_.pdf
  • supp_gr.226621.117_Supplemental_Table_S2.pdf
  • supp_gr.226621.117_Supplemental_Fig_S3.pdf
  • 100.pdf
  • supp_gr.226621.117_Supplemental_Table_S4_.pdf
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: 5584+6T>C
PubMed Link: 28224992
Variant Present in the following documents:
  • Main text
  • ejhg20179x6.xlsx, sheet 1
View BVdb publication page



Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Advances In Bioinformatics
Tang, Rongying R; Prosser, Debra O DO; Love, Donald R DR
Publication Date: 2016

Variant appearance in text: ABCA4: 5584+6T>C
PubMed Link: 27313609
Variant Present in the following documents:
  • 5614058.f1.pdf
View BVdb publication page