ABCA4 c.587C>T ;(p.P196L)

Variant ID: 1-94564531-G-A

NM_000350.2(ABCA4):c.587C>T;(p.P196L)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
Publication Date: 2021-03

Variant appearance in text: ABCA4: 587C>T
PubMed Link: 36246008
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page


Stargardt disease: Multimodal imaging: A review.

Clinical & Experimental Ophthalmology
Heath Jeffery, Rachael C RC; Chen, Fred K FK
Publication Date: 2021-07

Variant appearance in text: ABCA4: 587C>T
PubMed Link: 34013643
Variant Present in the following documents:
  • Main text
  • CEO-49-498.pdf
View BVdb publication page


Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.

Scientific Reports
Charng, Jason J; Xiao, Di D; Mehdizadeh, Maryam M; Attia, Mary S MS; Arunachalam, Sukanya S; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; De Roach, John N JN; Mackey, David A DA; Frost, Shaun S; Chen, Fred K FK
Publication Date: 2020-10-05

Variant appearance in text: STGD1: 587C>T
PubMed Link: 33020556
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_73339.pdf
View BVdb publication page


Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

Genes
Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH
Publication Date: 2019-11-21

Variant appearance in text: ABCA4: Pro196Leu
PubMed Link: 31766579
Variant Present in the following documents:
  • Main text
  • genes-10-00959.pdf
View BVdb publication page