ABCA4 c.5312+1G>A

Variant ID: 1-94481294-C-T

NM_000350.2(ABCA4):c.5312+1G>A

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: 5312+1G>A; rs886044750
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: 5312+1G>A
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: 5312+1G>A
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

International Journal Of Molecular Sciences
Ścieżyńska, Aneta A; Soszyńska, Marta M; Komorowski, Michał M; Podgórska, Anna A; Krześniak, Natalia N; Nogowska, Aleksandra A; Smolińska, Martyna M; Szulborski, Kamil K; Szaflik, Jacek P JP; Noszczyk, Bartłomiej B; Ołdak, Monika M; Malejczyk, Jacek J
Publication Date: 2020-05-13

Variant appearance in text: ABCA4: 5312+1G>A
PubMed Link: 32413971
Variant Present in the following documents:
  • Main text
  • ijms-21-03430.pdf
View BVdb publication page



Lessons learned from quantitative fundus autofluorescence.

Progress In Retinal And Eye Research
Sparrow, Janet R JR; Duncker, Tobias T; Schuerch, Kaspar K; Paavo, Maarjaliis M; de Carvalho, Jose Ronaldo Lima JRL
Publication Date: 2020-01

Variant appearance in text: ABCA4: 5312+1G>A
PubMed Link: 31472235
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: 5312+1G>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: 5312+1G>A
PubMed Link: 29701254
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Ophthalmology
Tanaka, Koji K; Lee, Winston W; Zernant, Jana J; Schuerch, Kaspar K; Ciccone, Lyam L; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2018-01

Variant appearance in text: ABCA4: 5312+1G>A
PubMed Link: 28947085
Variant Present in the following documents:
  • Main text
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: 5312+1G>A
PubMed Link: 28446513
Variant Present in the following documents:
  • Main text
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: 5312+1G>A
PubMed Link: 28118664
Variant Present in the following documents:
  • iovs-57-15-69_s04.pdf
  • iovs-57-15-69_s01.pdf
  • iovs-57-15-69_s05.pdf
View BVdb publication page



Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

Investigative Ophthalmology & Visual Science
Cideciyan, Artur V AV; Swider, Malgorzata M; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG
Publication Date: 2015-09

Variant appearance in text: ABCA4: 5312+1G>A
PubMed Link: 26377081
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: 5312+1G>A
PubMed Link: 25139735
Variant Present in the following documents:
  • Main text
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: 5312+1G>A
PubMed Link: 21911583
Variant Present in the following documents:
  • Main text
View BVdb publication page