ABCA4 c.1586A>G ;(p.N529S)

Variant ID: 1-94528842-T-C

NM_000350.2(ABCA4):c.1586A>G;(p.N529S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: N529S
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 7
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
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: ABCA4: 1586A>G
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 4
View BVdb publication page



Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

Investigative Ophthalmology & Visual Science
Testa, Francesco F; Rossi, Settimio S; Sodi, Andrea A; Passerini, Ilaria I; Di Iorio, Valentina V; Della Corte, Michele M; Banfi, Sandro S; Surace, Enrico Maria EM; Menchini, Ugo U; Auricchio, Alberto A; Simonelli, Francesca F
Publication Date: 2012-07-03

Variant appearance in text: ABCA4: N529S
PubMed Link: 22661472
Variant Present in the following documents:
  • Main text
View BVdb publication page