ABCA4 c.1906C>T ;(p.Q636*)

Variant ID: 1-94528164-G-A

NM_000350.2(ABCA4):c.1906C>T;(p.Q636*)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Genes
Mc Clinton, Benjamin B; Corradi, Zelia Z; McKibbin, Martin M; Panneman, Daan M DM; Roosing, Susanne S; Boonen, Erica G M EGM; Ali, Manir M; Watson, Christopher M CM; Steel, David H DH; Cremers, Frans P M FPM; Inglehearn, Chris F CF; Hitti-Malin, Rebekkah J RJ; Toomes, Carmel C
Publication Date: 2023-01-11

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 36672932
Variant Present in the following documents:
  • genes-14-00191.pdf
View BVdb publication page



Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
Publication Date: 2021-03

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 36246008
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page



SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.

Retina (Philadelphia, Pa.)
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; De Roach, John N JN; Azamanov, Dimitar N DN; McAllister, Ian L IL; Constable, Ian J IJ; Chen, Fred K FK
Publication Date: 2022-08-01

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 35344533
Variant Present in the following documents:
  • Main text
  • retina-42-1545.pdf
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: 1906C>T; Gln636Ter; rs145961131
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: Q636X
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Genes
Cipriani, Valentina V; Pontikos, Nikolas N; Arno, Gavin G; Sergouniotis, Panagiotis I PI; Lenassi, Eva E; Thawong, Penpitcha P; Danis, Daniel D; Michaelides, Michel M; Webster, Andrew R AR; Moore, Anthony T AT; Robinson, Peter N PN; Jacobsen, Julius O B JOB; Smedley, Damian D
Publication Date: 2020-04-23

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 32340307
Variant Present in the following documents:
  • genes-11-00460-s001.pdf
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: 1906C>T
PubMed Link: 30834176
Variant Present in the following documents:
  • Main text
  • i2164-2591-8-2-1.pdf
View BVdb publication page



CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Retina (Philadelphia, Pa.)
Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Park, Jason C JC; Zernant, Jana J; McAnany, J Jason JJ; Allikmets, Rando R
Publication Date: 2019-12

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 30204727
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: ABCR: 1906C>T
PubMed Link: 29925512
Variant Present in the following documents:
  • Main text
  • bjophthalmol-2018-312064supp005.pdf
  • bjophthalmol-2018-312064supp004.pdf
  • bjophthalmol-2018-312064.pdf
View BVdb publication page



Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.

Ophthalmology
Mehat, Manjit S MS; Sundaram, Venki V; Ripamonti, Caterina C; Robson, Anthony G AG; Smith, Alexander J AJ; Borooah, Shyamanga S; Robinson, Martha M; Rosenthal, Adam N AN; Innes, William W; Weleber, Richard G RG; Lee, Richard W J RWJ; Crossland, Michael M; Rubin, Gary S GS; Dhillon, Baljean B; Steel, David H W DHW; Anglade, Eddy E; Lanza, Robert P RP; Ali, Robin R RR; Michaelides, Michel M; Bainbridge, James W B JWB
Publication Date: 2018-11

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 29884405
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics
Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 1906C>T
PubMed Link: 28446513
Variant Present in the following documents:
  • Main text
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: 1906C>T; Gln636Ter
PubMed Link: 27208204
Variant Present in the following documents:
  • jmedgenet-2016-103837supp_tables.pdf
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: 1906C>T; rs145961131
PubMed Link: 25312043
Variant Present in the following documents:
  • Main text
  • nihms693250.pdf
  • NIHMS693250-supplement-Table_4.pdf
View BVdb publication page



Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.

Retina (Philadelphia, Pa.)
Collison, Frederick T FT; Fishman, Gerald A GA; McAnany, J Jason JJ; Zernant, Jana J; Allikmets, Rando R
Publication Date: 2014-09

Variant appearance in text: ABCA4: Gln636*
PubMed Link: 24695063
Variant Present in the following documents:
  • Main text
View BVdb publication page



The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina (Philadelphia, Pa.)
Chun, Robert R; Fishman, Gerald A GA; Collison, Frederick T FT; Stone, Edwin M EM; Zernant, Jana J; Allikmets, Rando R
Publication Date: 2014-07

Variant appearance in text: ABCA4: Q636X
PubMed Link: 24317291
Variant Present in the following documents:
  • Main text
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: 1906C>T; Q636*; rs145961131
PubMed Link: 23982839
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

Bmc Medical Genetics
Strom, Samuel P SP; Gao, Yong-Qing YQ; Martinez, Ariadna A; Ortube, Carolina C; Chen, Zugen Z; Nelson, Stanley F SF; Nusinowitz, Steven S; Farber, Deborah B DB; Gorin, Michael B MB
Publication Date: 2012-08-03

Variant appearance in text: ABCA4: Q636X
PubMed Link: 22863181
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-67.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: ABCA4: 1906C>T
PubMed Link: 21911583
Variant Present in the following documents:
  • Main text
View BVdb publication page