ABCA4 c.466A>G ;(p.I156V)

Variant ID: 1-94568675-T-C

NM_000350.2(ABCA4):c.466A>G;(p.I156V)

This variant was identified in 23 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: 466A>G; Ile156Val
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.pdf
View BVdb publication page



Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Orphanet Journal Of Rare Diseases
Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G
Publication Date: 2022-05-12

Variant appearance in text: ABCA4: 466A>G; Ile156Val
PubMed Link: 35551639
Variant Present in the following documents:
  • 13023_2022_2340_MOESM2_ESM.xlsx, sheet 1
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: 466A>G; Ile156Val; rs62646863
PubMed Link: 35260635
Variant Present in the following documents:
  • 41598_2022_7618_MOESM1_ESM.pdf
View BVdb publication page



A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

International Journal Of Molecular Sciences
Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; González-Del Pozo, María M; Méndez-Vidal, Cristina C; Fernández-Suárez, Elena E; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2020-12-08

Variant appearance in text: ABCA4: 466A>G; Ile156Val
PubMed Link: 33302505
Variant Present in the following documents:
  • Main text
  • ijms-21-09355.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: I156V
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 7
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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: 466A>G
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: 466A>G; I156V
PubMed Link: 32298433
Variant Present in the following documents:
  • iovs-61-4-13_s001.pdf
View BVdb publication page



Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.

Bioscience Reports
Imani, Saber S; Cheng, Jingliang J; Fu, Jiewen J; Mobasher-Jannat, Abdolkarim A; Wei, Chunli C; Mohazzab-Torabi, Saman S; Jadidi, Khosrow K; Khosravi, Mohammad Hossein MH; Shasaltaneh, Marzieh Dehghan MD; Yang, Lisha L; Khan, Md Asaduzzaman MA; Fu, Junjiang J
Publication Date: 2019-03-29

Variant appearance in text: ABCA4: 466A>G; I156V
PubMed Link: 30850397
Variant Present in the following documents:
  • bsr-39-bsr20181544_Supp1.xlsx, sheet 1
View BVdb publication page



Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Clinical Genetics
Kersten, Eveline E; Geerlings, Maartje J MJ; Pauper, Marc M; Corominas, Jordi J; Bakker, Bjorn B; Altay, Lebriz L; Fauser, Sascha S; de Jong, Eiko K EK; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2018-12

Variant appearance in text: ABCA4: 466A>G; I156V
PubMed Link: 30215852
Variant Present in the following documents:
  • CGE-94-569-s003.xlsx, sheet 1
View BVdb publication page



Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.

Scientific Reports
González-Del Pozo, María M; Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Chimenea, Ángel Á; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
Publication Date: 2018-09-06

Variant appearance in text: ABCA4: Ile156Val
PubMed Link: 30190494
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_31511.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: 466A>G
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: ABCA4: 466A>G; rs62646863
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Scientific Reports
Tiwari, Amit A; Bahr, Angela A; Bähr, Luzy L; Fleischhauer, Johannes J; Zinkernagel, Martin S MS; Winkler, Niklas N; Barthelmes, Daniel D; Berger, Lieselotte L; Gerth-Kahlert, Christina C; Neidhardt, John J; Berger, Wolfgang W
Publication Date: 2016-06-29

Variant appearance in text: ABCA4: 466A>G; Ile156Val
PubMed Link: 27353947
Variant Present in the following documents:
  • srep28755-s1.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: I156V; rs62646863
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: I156V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: ABCA4: I156V
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: ABCA4: I156V
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: ABCA4: I156V
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science
Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M
Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 466A>G; I156V
PubMed Link: 23982839
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

The British Journal Of Ophthalmology
Aguirre-Lamban, J J; Riveiro-Alvarez, R R; Maia-Lopes, S S; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Villaverde-Montero, C C; Trujillo-Tiebas, M J MJ; Ramos, C C; Ayuso, C C
Publication Date: 2009-05

Variant appearance in text: STGD: 466A>G
PubMed Link: 19028736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British Journal Of Ophthalmology
Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C
Publication Date: 2009-10

Variant appearance in text: ABCA4: 466A>G
PubMed Link: 18977788
Variant Present in the following documents:
  • Main text
  • BJ1-93-10-1359.pdf
View BVdb publication page



The ABCA4 gene in autosomal recessive cone-rod dystrophies.

American Journal Of Human Genetics
Ducroq, Dominique D; Rozet, Jean-Michel JM; Gerber, Sylvie S; Perrault, Isabelle I; Barbet, Dabienne D; Hanein, Sylvain S; Hakiki, Selim S; Dufier, Jean-Louis JL; Munnich, Arnold A; Hamel, Christian C; Kaplan, Josseline J
Publication Date: 2002-12

Variant appearance in text: ABCA4: I156V
PubMed Link: 12515255
Variant Present in the following documents:
  • Main text
View BVdb publication page