ABCA4 c.6249C>T ;(p.I2083=)

Variant ID: 1-94467447-G-A

NM_000350.2(ABCA4):c.6249C>T;(p.I2083=)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.

Jci Insight
Kolesnikova, Masha M; Oh, Jin Kyun JK; Wang, Jiali J; Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Kim, Angela H AH; Jenny, Laura A LA; Yang, Tingting T; Allikmets, Rando R; Tsang, Stephen H SH
Publication Date: 2022-12-08

Variant appearance in text: ABCA4: 6249C>T; Ile2083Ile
PubMed Link: 36264634
Variant Present in the following documents:
  • jciinsight-7-162687-s246.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ABCA4: I2083I
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ABCA4: Ile2083Ile; rs1801359
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics
Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M
Publication Date: 2020-09-01

Variant appearance in text: ABCA4: 6249C>T
PubMed Link: 32867697
Variant Present in the following documents:
  • 12881_2020_1110_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)
Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P
Publication Date: 2020

Variant appearance in text: rs1801359
PubMed Link: 31934596
Variant Present in the following documents:
  • Main text
  • 40662_2019_Article_168.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: N/A
PubMed Link: 31640808
Variant Present in the following documents:
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: ABCA4: I2083I; rs1801359
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
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: rs1801359
PubMed Link: 28118664
Variant Present in the following documents:
  • Main text
  • iovs-57-15-69_s04.pdf
  • iovs-57-15-69_s07.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: ABCA4: I2083I; rs1801359
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: N/A
PubMed Link: 26496393
Variant Present in the following documents:
View BVdb publication page



Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).

Bmc Ophthalmology
Grassmann, Felix F; Bergholz, Richard R; Mändl, Julia J; Jägle, Herbert H; Ruether, Klaus K; Weber, Bernhard H F BH
Publication Date: 2015-03-06

Variant appearance in text: ABCA4: 6249C>T; I2083I
PubMed Link: 25884411
Variant Present in the following documents:
  • Main text
  • 12886_2015_Article_8.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ABCA4: I2083I; rs1801359
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genetic and clinical analysis of ABCA4-associated disease in African American patients.

Human Mutation
Zernant, Jana J; Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Noupuu, Kalev K; Yuan, Bo B; Cai, Carolyn C; Lupski, James R JR; Yannuzzi, Lawrence A LA; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2014-10

Variant appearance in text: ABCA4: 6249C>T
PubMed Link: 25066811
Variant Present in the following documents:
  • Main text
  • humu0035-1187.pdf
View BVdb publication page



Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science
Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R
Publication Date: 2011-10-31

Variant appearance in text: N/A
PubMed Link: 21911583
Variant Present in the following documents:
View BVdb publication page



ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision
Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED
Publication Date: 2009

Variant appearance in text: STGD: 6249C>T; Ile2083Ile
PubMed Link: 19365591
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Investigative Ophthalmology & Visual Science
Singh, Hardeep Pal HP; Jalali, Subhadra S; Narayanan, Raja R; Kannabiran, Chitra C
Publication Date: 2009-09

Variant appearance in text: rs1801359
PubMed Link: 19339744
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: 6249C>T; Ile2083Ile
PubMed Link: 18977788
Variant Present in the following documents:
  • Main text
  • BJ1-93-10-1359.pdf
View BVdb publication page



A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American Journal Of Human Genetics
Rivera, A A; White, K K; Stöhr, H H; Steiner, K K; Hemmrich, N N; Grimm, T T; Jurklies, B B; Lorenz, B B; Scholl, H P HP; Apfelstedt-Sylla, E E; Weber, B H BH
Publication Date: 2000-10

Variant appearance in text: STGD: I2083I
PubMed Link: 10958763
Variant Present in the following documents:
  • Main text
View BVdb publication page