ABCA4 c.6743T>C ;(p.F2248S)

Variant ID: 1-94461738-A-G

NM_000350.2(ABCA4):c.6743T>C;(p.F2248S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine
Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S
Publication Date: 2021-11-18

Variant appearance in text: ABCA4: 6743T>C
PubMed Link: 34795310
Variant Present in the following documents:
  • Main text
  • 41525_2021_261_MOESM2_ESM.pdf
  • 41525_2021_Article_261.pdf
View BVdb publication page



Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes
Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ
Publication Date: 2020-01-16

Variant appearance in text: STGD1: 6743T>C
PubMed Link: 31963381
Variant Present in the following documents:
  • Main text
  • genes-11-00105.pdf
View BVdb publication page