ABCA4 c.2915C>A ;(p.T972N)

Variant ID: 1-94512478-G-T

NM_000350.2(ABCA4):c.2915C>A;(p.T972N)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: 2915C>A
PubMed Link: 36246008
Variant Present in the following documents:
  • mmc3.pdf
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: 2915C>A; Thr972Asn
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.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: 2915C>A
PubMed Link: 35089312
Variant Present in the following documents:
  • Main text
  • tvst-11-1-36.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: 2915C>A
PubMed Link: 35089312
Variant Present in the following documents:
  • Main text
  • tvst-11-1-36.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: Thr972Asn
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: 2915C>A; Thr972Asn; rs61749451
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: 2915C>A; T972N
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: T972N
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM
Publication Date: 2020-06

Variant appearance in text: ABCA4: 2915C>A; Thr972Asn
PubMed Link: 32037395
Variant Present in the following documents:
  • 41436_2020_759_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Multi-platform imaging in ABCA4-Associated Disease.

Scientific Reports
Chen, Lijuan L; Lee, Winston W; de Carvalho, Jose Ronaldo Lima JRL; Chang, Stanley S; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR
Publication Date: 2019-04-23

Variant appearance in text: ABCA4: T972N
PubMed Link: 31015497
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42772.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: 2915C>A
PubMed Link: 29925512
Variant Present in the following documents:
  • bjophthalmol-2018-312064supp005.pdf
  • bjophthalmol-2018-312064supp004.pdf
View BVdb publication page



Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

Journal Of Neuroscience Research
Paavo, Maarjaliis M; Lee, Winston W; Allikmets, Rando R; Tsang, Stephen S; Sparrow, Janet R JR
Publication Date: 2019-01

Variant appearance in text: ABCA4: T972N
PubMed Link: 29701254
Variant Present in the following documents:
  • Main text
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: 2915C>A
PubMed Link: 29386879
Variant Present in the following documents:
  • Main text
  • mv-v24-1.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: 2915C>A; rs61749451
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ABCA4: T972N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
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: STGD1: T972N
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography.

The British Journal Of Ophthalmology
Strauss, Rupert W RW; Muñoz, Beatriz B; Wolfson, Yulia Y; Sophie, Raafay R; Fletcher, Emily E; Bittencourt, Millena G MG; Scholl, Hendrik P N HP
Publication Date: 2016-07

Variant appearance in text: ABCA4: Thr972Asn
PubMed Link: 26568636
Variant Present in the following documents:
  • bjophthalmol-2015-307035-s1.pdf
View BVdb publication page



iPS Cells for Modelling and Treatment of Retinal Diseases.

Journal Of Clinical Medicine
Chen, Fred K FK; McLenachan, Samuel S; Edel, Michael M; Da Cruz, Lyndon L; Coffey, Peter J PJ; Mackey, David A DA
Publication Date: 2014-12-19

Variant appearance in text: ABCA4: 2915C>A
PubMed Link: 26237613
Variant Present in the following documents:
  • Main text
  • jcm-03-01511.pdf
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: T972N
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: T972N
PubMed Link: 25139735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Investigative Ophthalmology & Visual Science
Bertelsen, Mette M; Zernant, Jana J; Larsen, Michael M; Duno, Morten M; Allikmets, Rando R; Rosenberg, Thomas T
Publication Date: 2014-04-29

Variant appearance in text: ABCA4: 2915C>A; T972N
PubMed Link: 24713488
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: T972N
PubMed Link: 24677105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Investigative Ophthalmology & Visual Science
Duncker, Tobias T; Lee, Winston W; Tsang, Stephen H SH; Greenberg, Jonathan P JP; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR
Publication Date: 2013-10-17

Variant appearance in text: STGD1: T972N
PubMed Link: 24071957
Variant Present in the following documents:
  • Main text
View BVdb publication page