ABCA4 c.1556G>T ;(p.C519F)

Variant ID: 1-94528872-C-A

NM_000350.2(ABCA4):c.1556G>T;(p.C519F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)
Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P
Publication Date: 2020

Variant appearance in text: STGD1: C519F
PubMed Link: 31934596
Variant Present in the following documents:
  • Main text
  • 40662_2019_Article_168.pdf
View BVdb publication page