ABCA4 c.2587+2T>C

Variant ID: 1-94520665-A-G

NM_000350.2(ABCA4):c.2587+2T>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 2587+2T>C
PubMed Link: 36178783
Variant Present in the following documents:
  • tvst-11-9-34_s002.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: 2587+2T>C
PubMed Link: 34874912
Variant Present in the following documents:
  • jciinsight-7-156154.pdf
  • jciinsight-7-156154-s174.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R
Publication Date: 2015-04

Variant appearance in text: ABCR: 2587+2T>C
PubMed Link: 25474345
Variant Present in the following documents:
View BVdb publication page