ABCA4 c.570+1798A>G

Variant ID: 1-94566773-T-C

NM_000350.2(ABCA4):c.570+1798A>G

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation
Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM
Publication Date: 2022-10-19

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 36259723
Variant Present in the following documents:
  • HUMU-43-2234-s012.xlsx, sheet 1
  • HUMU-43-2234-s007.xlsx, sheet 1
View BVdb publication page



Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 35754842
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.

Translational Vision Science & Technology
Matynia, Anna A; Wang, Jun J; Kim, Sangbae S; Li, Yumei Y; Dimashkie, Anupama A; Jiang, Zhichun Z; Hu, Jane J; Strom, Samuel P SP; Radu, Roxana A RA; Chen, Rui R; Gorin, Michael B MB
Publication Date: 2022-03-02

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 35348597
Variant Present in the following documents:
  • Main text
  • tvst-11-3-33.pdf
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Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational Vision Science & Technology
Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 34985506
Variant Present in the following documents:
  • tvst-11-1-6_s001.pdf
View BVdb publication page



Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Translational Vision Science & Technology
Tuupanen, Sari S; Gall, Kimberly K; Sistonen, Johanna J; Saarinen, Inka I; Kämpjärvi, Kati K; Wells, Kirsty K; Merkkiniemi, Katja K; von Nandelstadh, Pernilla P; Sarantaus, Laura L; Känsäkoski, Johanna J; Mårtenson, Emma E; Västinsalo, Hanna H; Schleit, Jennifer J; Sankila, Eeva-Marja EM; Kere, Annakarin A; Junnila, Heidi H; Siivonen, Pauli P; Andreevskaya, Margarita M; Kytölä, Ville V; Muona, Mikko M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 34985506
Variant Present in the following documents:
  • tvst-11-1-6_s001.pdf
View BVdb publication page



Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.

International Journal Of Molecular Sciences
Tomkiewicz, Tomasz Z TZ; Suárez-Herrera, Nuria N; Cremers, Frans P M FPM; Collin, Rob W J RWJ; Garanto, Alejandro A
Publication Date: 2021-04-28

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 33924840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.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: 570+1798A>G
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.pdf
View BVdb publication page



Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.

International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Méjécase, Cécile C; Varin, Juliette J; Wohlschlegel, Juliette J; Dhaenens, Claire-Marie CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2019-10-11

Variant appearance in text: ABCA4: 570+1798A>G
PubMed Link: 31614660
Variant Present in the following documents:
  • ijms-20-05053-s001.pdf
View BVdb publication page



Analysis of the ABCA4 genomic locus in Stargardt disease.

Human Molecular Genetics
Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R
Publication Date: 2014-12-20

Variant appearance in text: STGD: 570+1798A>G
PubMed Link: 25082829
Variant Present in the following documents:
  • Main text
View BVdb publication page