ABCA4 c.5351T>C ;(p.L1784P)

Variant ID: 1-94480208-A-G

NM_000350.2(ABCA4):c.5351T>C;(p.L1784P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 5351T>C
PubMed Link: 31963381
Variant Present in the following documents:
  • Main text
  • genes-11-00105.pdf
View BVdb publication page



Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences
Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I
Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 5351T>C
PubMed Link: 30060493
Variant Present in the following documents:
  • Main text
  • ijms-19-02196.pdf
View BVdb publication page