ABCA4 c.4363T>C ;(p.C1455R)

Variant ID: 1-94495177-A-G

NM_000350.2(ABCA4):c.4363T>C;(p.C1455R)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


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: 4363T>C; Cys1455Arg
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

International Journal Of Molecular Sciences
Stephenson, Kirk A J KAJ; Zhu, Julia J; Dockery, Adrian A; Whelan, Laura L; Burke, Tomás T; Turner, Jacqueline J; O'Byrne, James J JJ; Farrar, G Jane GJ; Keegan, David J DJ
Publication Date: 2022-01-17

Variant appearance in text: ABCA4: 4363T>C
PubMed Link: 35055178
Variant Present in the following documents:
  • Main text
  • ijms-23-00995.pdf
View BVdb publication page



Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

International Journal Of Molecular Sciences
Stephenson, Kirk A J KAJ; Zhu, Julia J; Dockery, Adrian A; Whelan, Laura L; Burke, Tomás T; Turner, Jacqueline J; O'Byrne, James J JJ; Farrar, G Jane GJ; Keegan, David J DJ
Publication Date: 2022-01-17

Variant appearance in text: ABCA4: 4363T>C
PubMed Link: 35055178
Variant Present in the following documents:
  • Main text
  • ijms-23-00995.pdf
View BVdb publication page



Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Nature Communications
Scortecci, Jessica Fernandes JF; Molday, Laurie L LL; Curtis, Susan B SB; Garces, Fabian A FA; Panwar, Pankaj P; Van Petegem, Filip F; Molday, Robert S RS
Publication Date: 2021-10-08

Variant appearance in text: ABCA4: C1455R
PubMed Link: 34625547
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26161.pdf
View BVdb publication page



Molecular structures of the eukaryotic retinal importer ABCA4.

Elife
Liu, Fangyu F; Lee, James J; Chen, Jue J
Publication Date: 2021-02-19

Variant appearance in text: ABCA4: C1455R
PubMed Link: 33605212
Variant Present in the following documents:
  • Main text
  • elife-63524.pdf
View BVdb publication page



Molecular structures of the eukaryotic retinal importer ABCA4.

Elife
Liu, Fangyu F; Lee, James J; Chen, Jue J
Publication Date: 2021-02-19

Variant appearance in text: ABCA4: C1455R
PubMed Link: 33605212
Variant Present in the following documents:
  • Main text
  • elife-63524.pdf
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: C1455R
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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: 4363T>C
PubMed Link: 30834176
Variant Present in the following documents:
  • Main text
  • i2164-2591-8-2-1.pdf
View BVdb publication page



Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Publication Date: 2019-08

Variant appearance in text: ABCA4: 4363T>C
PubMed Link: 30643219
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_414.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: ABCR: 4363T>C
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.

Molecular Vision
Schroeder, Marion M; Kjellström, Ulrika U
Publication Date: 2018

Variant appearance in text: STGD: 4363T>C
PubMed Link: 29386879
Variant Present in the following documents:
  • Main text
  • mv-v24-1.pdf
View BVdb publication page



Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J
Publication Date: 2018

Variant appearance in text: ABCA4: 4363T>C; Cys1455Arg; rs758835368
PubMed Link: 29343940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Ophthalmology
Khan, Kamron N KN; Kasilian, Melissa M; Mahroo, Omar A R OAR; Tanna, Preena P; Kalitzeos, Angelos A; Robson, Anthony G AG; Tsunoda, Kazushige K; Iwata, Takeshi T; Moore, Anthony T AT; Fujinami, Kaoru K; Michaelides, Michel M
Publication Date: 2018-05

Variant appearance in text: STGD1: 4363T>C
PubMed Link: 29310964
Variant Present in the following documents:
  • mmc2.pdf
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: 4363T>C; Cys1455Arg
PubMed Link: 25412400
Variant Present in the following documents:
  • NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1
View BVdb publication page



Clinical and molecular characteristics of childhood-onset Stargardt disease.

Ophthalmology
Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Robson, Anthony G AG; Holder, Graham E GE; Allikmets, Rando R; Michaelides, Michel M; Moore, Anthony T AT
Publication Date: 2015-02

Variant appearance in text: ABCA4: 4363T>C
PubMed Link: 25312043
Variant Present in the following documents:
  • Main text
  • nihms693250.pdf
  • NIHMS693250-supplement-Table_4.pdf
View BVdb publication page



Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.

Human Molecular Genetics
Schindler, Emily I EI; Nylen, Erik L EL; Ko, Audrey C AC; Affatigato, Louisa M LM; Heggen, Andrew C AC; Wang, Kai K; Sheffield, Val C VC; Stone, Edwin M EM
Publication Date: 2010-10-01

Variant appearance in text: ABCA4: Cys1455Arg
PubMed Link: 20647261
Variant Present in the following documents:
  • supp_ddq284_ddq284supp_Table.xls, sheet 1
View BVdb publication page