ABCA4 c.3210_3211insGT ;(p.S1071Vfs*14)

Variant ID: 1-94508434-A-AAC

NM_000350.2(ABCA4):c.3210_3211insGT;(p.S1071Vfs*14)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients.

Molecular Therapy. Nucleic Acids
Siles, Laura L; Ruiz-Nogales, Sheila S; Navinés-Ferrer, Arnau A; Méndez-Vendrell, Pilar P; Pomares, Esther E
Publication Date: 2023-06-13

Variant appearance in text: rs61750064
PubMed Link: 36969552
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
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: 3210_3211insGT; Ser1071Valfs*14
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs61750064
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.

Translational Vision Science & Technology
Tanna, Preena P; Georgiou, Michalis M; Strauss, Rupert W RW; Ali, Naser N; Kumaran, Neruban N; Kalitzeos, Angelos A; Fujinami, Kaoru K; Michaelides, Michel M
Publication Date: 2019-03

Variant appearance in text: STGD1: 3210_3211insGT
PubMed Link: 30834176
Variant Present in the following documents:
  • Main text
  • i2164-2591-8-2-1.pdf
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: STGD1: 3210_3211insGT
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy.

Investigative Ophthalmology & Visual Science
Tanna, Preena P; Kasilian, Melissa M; Strauss, Rupert R; Tee, James J; Kalitzeos, Angelos A; Tarima, Sergey S; Visotcky, Alexis A; Dubra, Alfredo A; Carroll, Joseph J; Michaelides, Michel M
Publication Date: 2017-07-01

Variant appearance in text: STGD: 3210_3211insGT
PubMed Link: 28738413
Variant Present in the following documents:
  • i1552-5783-58-9-3608.pdf
View BVdb publication page



Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Bmc Genetics
Méndez-Vidal, Cristina C; Bravo-Gil, Nereida N; González-Del Pozo, María M; Vela-Boza, Alicia A; Dopazo, Joaquín J; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2014-12-14

Variant appearance in text: ABCA4: 3210_3211insGT
PubMed Link: 25494902
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_143.pdf
View BVdb publication page