ABCA4 c.1924T>A ;(p.F642I)

Variant ID: 1-94528146-A-T

NM_000350.2(ABCA4):c.1924T>A;(p.F642I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y
Publication Date: 2021-06-25

Variant appearance in text: ABCA4: 1924T>A
PubMed Link: 33988224
Variant Present in the following documents:
  • Main text
  • bsr-41-bsr20203497.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: F642I
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

International Journal Of Molecular Sciences
Boulanger-Scemama, Elise E; Mohand-Saïd, Saddek S; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2019-09-30

Variant appearance in text: ABCA4: 1924T>A; F642I
PubMed Link: 31574917
Variant Present in the following documents:
  • Main text
  • ijms-20-04854.pdf
View BVdb publication page



ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Frontiers In Genetics
Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH
Publication Date: 2019

Variant appearance in text: STGD1: 1924T>A
PubMed Link: 31543898
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_3.xls, sheet 1
View BVdb publication page



Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Orphanet Journal Of Rare Diseases
Boulanger-Scemama, Elise E; El Shamieh, Said S; Démontant, Vanessa V; Condroyer, Christel C; Antonio, Aline A; Michiels, Christelle C; Boyard, Fiona F; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Souied, Eric E; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2015-06-24

Variant appearance in text: ABCA4: 1924T>A
PubMed Link: 26103963
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_300.pdf
View BVdb publication page



Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.

Molecular Vision
Jin, Xin X; Qu, Ling Hui LH; Meng, Xiao Hong XH; Xu, Hai Wei HW; Yin, Zheng Qin ZQ
Publication Date: 2014

Variant appearance in text: ABCA4: 1924T>A
PubMed Link: 24791140
Variant Present in the following documents:
  • Main text
  • mv-v20-553.pdf
View BVdb publication page