ABCA4 c.6449G>A ;(p.C2150Y)

Variant ID: 1-94466422-C-T

NM_000350.2(ABCA4):c.6449G>A;(p.C2150Y)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.

International Journal Of Molecular Sciences
Sajovic, Jana J; Meglič, Andrej A; Hawlina, Marko M; Fakin, Ana A
Publication Date: 2022-12-18

Variant appearance in text: ABCA4: Cys2150Tyr
PubMed Link: 36555803
Variant Present in the following documents:
  • Main text
  • ijms-23-16161.pdf
View BVdb publication page



Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 6449G>A; Cys2150Tyr
PubMed Link: 36460718
Variant Present in the following documents:
  • 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1
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: 6449G>A; Cys2150Tyr
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports
Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M
Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 6449G>A; Cys2150Tyr; rs61751384
PubMed Link: 35260635
Variant Present in the following documents:
  • 41598_2022_7618_MOESM1_ESM.pdf
View BVdb publication page



Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page



Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 35119454
Variant Present in the following documents:
  • iovs-63-2-11_s003.pdf
View BVdb publication page



Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology
Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 35089312
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology
Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR
Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 35089312
Variant Present in the following documents:
  • Main text
View BVdb publication page



Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Jci Insight
Pfau, Maximilian M; Cukras, Catherine A CA; Huryn, Laryssa A LA; Zein, Wadih M WM; Ullah, Ehsan E; Boyle, Marisa P MP; Turriff, Amy A; Chen, Michelle A MA; Hinduja, Aarti S AS; Siebel, Hermann Ea HE; Hufnagel, Robert B RB; Jeffrey, Brett G BG; Brooks, Brian P BP
Publication Date: 2022-01-25

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 35076026
Variant Present in the following documents:
  • jciinsight-7-155373.pdf
  • jciinsight-7-155373-s142.pdf
View BVdb publication page



A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight
Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Cys2150Tyr
PubMed Link: 34874912
Variant Present in the following documents:
  • jciinsight-7-156154.pdf
  • jciinsight-7-156154-s174.xlsx, sheet 1
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: ABCA4: 6449G>A; Cys2150Tyr; rs61751384
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021

Variant appearance in text: ABCA4: 6449G>A; Cys2150Tyr
PubMed Link: 33841504
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 2
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: 6449G>A; C2150Y
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.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: C2150Y
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica
Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J
Publication Date: 2020-12

Variant appearance in text: ABCA4: 6449G>A; Cys2150Tyr
PubMed Link: 32483926
Variant Present in the following documents:
  • Main text
  • AOS-98-e1034-s006.xlsx, sheet 1
View BVdb publication page



The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

European Journal Of Human Genetics : Ejhg
Green, Jane S JS; O'Rielly, Darren D DD; Pater, Justin A JA; Houston, Jim J; Rajabi, Hoda H; Galutira, Dante D; Benteau, Tammy T; Sheaves, Amy A; Abdelfatah, Nelly N; Bautista, Donna D; Whelan, Jim J; Young, Terry-Lynn TL
Publication Date: 2020-07

Variant appearance in text: STGD: 6449G>A
PubMed Link: 32467599
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cone Dystrophies: An Optical Coherence Tomography Angiography Study.

Journal Of Clinical Medicine
Toto, Lisa L; Battaglia Parodi, Maurizio M; D'Aloisio, Rossella R; Mercuri, Stefano S; Senatore, Alfonso A; Di Antonio, Luca L; Di Marzio, Guido G; Di Nicola, Marta M; Mastropasqua, Rodolfo R
Publication Date: 2020-05-16

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 32429449
Variant Present in the following documents:
  • Main text
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: 6449G>A; C2150Y
PubMed Link: 32298433
Variant Present in the following documents:
  • iovs-61-4-13_s001.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: ABCA4: 6449G>A; Cys2150Tyr; rs61751384
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.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: 6449G>A
PubMed Link: 30834176
Variant Present in the following documents:
  • Main text
  • i2164-2591-8-2-1.pdf
View BVdb publication page



Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.

American Journal Of Ophthalmology
Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P
Publication Date: 2019-06

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 30771335
Variant Present in the following documents:
  • Main text
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: 6449G>A
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: ABCA4: 6449G>A; rs61751384
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Publication Date: 2017-01-01

Variant appearance in text: STGD: 6449G>A
PubMed Link: 28118664
Variant Present in the following documents:
  • iovs-57-15-69_s04.pdf
  • iovs-57-15-69_s05.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ABCA4: 6449G>A; C2150Y
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Molecular findings from 537 individuals with inherited retinal disease.

Journal Of Medical Genetics
Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM
Publication Date: 2016-11

Variant appearance in text: ABCA4: 6449G>A; Cys2150Tyr
PubMed Link: 27208204
Variant Present in the following documents:
  • jmedgenet-2016-103837supp_tables.pdf
View BVdb publication page



Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease.

Translational Vision Science & Technology
Razeen, Moataz M MM; Cooper, Robert F RF; Langlo, Christopher S CS; Goldberg, Mara R MR; Wilk, Melissa A MA; Han, Dennis P DP; Connor, Thomas B TB; Fishman, Gerald A GA; Collison, Frederick T FT; Sulai, Yusufu N YN; Dubra, Alfredo A; Carroll, Joseph J; Stepien, Kimberly E KE
Publication Date: 2016-03

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 26981328
Variant Present in the following documents:
  • i2164-2591-5-2-6.pdf
  • i2164-2591-5-2-6-s01.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CORD3: C2150Y
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science
Duncker, Tobias T; Marsiglia, Marcela M; Lee, Winston W; Zernant, Jana J; Tsang, Stephen H SH; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR
Publication Date: 2014-10-23

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 25342616
Variant Present in the following documents:
  • Main text
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: 6449G>A; rs61751384
PubMed Link: 25312043
Variant Present in the following documents:
  • Main text
  • nihms693250.pdf
  • NIHMS693250-supplement-Table_4.pdf
View BVdb publication page



Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Investigative Ophthalmology & Visual Science
Nõupuu, Kalev K; Lee, Winston W; Zernant, Jana J; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2014-10-09

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 25301883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Ophthalmology
Duncker, Tobias T; Tsang, Stephen H SH; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Delori, François C FC; Sparrow, Janet R JR
Publication Date: 2015-02

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 25283059
Variant Present in the following documents:
  • Main text
View BVdb publication page



The external limiting membrane in early-onset Stargardt disease.

Investigative Ophthalmology & Visual Science
Lee, Winston W; Nõupuu, Kalev K; Oll, Maris M; Duncker, Tobias T; Burke, Tomas T; Zernant, Jana J; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2014-08-19

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 25139735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantitative fundus autofluorescence in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Duncker, Tobias T; Woods, Russell L RL; Greenberg, Jonathan P JP; Zernant, Jana J; Tsang, Stephen H SH; Smith, R Theodore RT; Allikmets, Rando R; Sparrow, Janet R JR; Delori, François C FC
Publication Date: 2014-05-01

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 24677105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology
Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C
Publication Date: 2013-11

Variant appearance in text: ABCA4: 6449G>A
PubMed Link: 23755871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision
Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS
Publication Date: 2012

Variant appearance in text: ABCR: Cys2150Tyr
PubMed Link: 22328824
Variant Present in the following documents:
  • Main text
  • mv-v18-280.pdf
View BVdb publication page



Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).

Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Rhee, David W DW; Smith, R Theodore RT; Tsang, Stephen H SH; Allikmets, Rando R; Chang, Stanley S; Lazow, Margot A MA; Hood, Donald C DC; Greenstein, Vivienne C VC
Publication Date: 2011-10-10

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 21873672
Variant Present in the following documents:
  • Main text
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: Cys2150Tyr
PubMed Link: 20647261
Variant Present in the following documents:
  • supp_ddq284_ddq284supp_Table.xls, sheet 1
View BVdb publication page



ABCA4 disease progression and a proposed strategy for gene therapy.

Human Molecular Genetics
Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Tsybovsky, Yaroslav Y; Schwartz, Sharon B SB; Windsor, Elizabeth A M EA; Roman, Alejandro J AJ; Sumaroka, Alexander A; Steinberg, Janet D JD; Jacobson, Samuel G SG; Stone, Edwin M EM; Palczewski, Krzysztof K
Publication Date: 2009-03-01

Variant appearance in text: ABCA4: C2150Y
PubMed Link: 19074458
Variant Present in the following documents:
  • Main text
View BVdb publication page



ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

The British Journal Of Ophthalmology
Michaelides, M M; Chen, L L LL; Brantley, M A MA; Andorf, J L JL; Isaak, E M EM; Jenkins, S A SA; Holder, G E GE; Bird, A C AC; Stone, E M EM; Webster, A R AR
Publication Date: 2007-12

Variant appearance in text: ABCA4: Cys2150Tyr
PubMed Link: 18024811
Variant Present in the following documents:
  • Main text
View BVdb publication page