ABCA4 c.4070C>A ;(p.A1357E)

Variant ID: 1-94497392-G-T

NM_000350.2(ABCA4):c.4070C>A;(p.A1357E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine
Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL
Publication Date: 2021-02-19

Variant appearance in text: ABCA4: 4070C>A; Ala1357Glu
PubMed Link: 33608557
Variant Present in the following documents:
  • 41525_2021_180_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.

Genes
Sung, Yu-Chi YC; Yang, Chang-Hao CH; Yang, Chung-May CM; Lin, Chao-Wen CW; Huang, Ding-Siang DS; Huang, Yu-Shu YS; Hu, Fung-Rong FR; Chen, Pei-Lung PL; Chen, Ta-Ching TC
Publication Date: 2020-11-27

Variant appearance in text: STGD1: 4070C>A
PubMed Link: 33261146
Variant Present in the following documents:
  • Main text
  • genes-11-01421.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: A1357E
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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: 4070C>A; A1357E
PubMed Link: 23982839
Variant Present in the following documents:
  • Main text
View BVdb publication page