ABCA4 c.4216del ;(p.H1406Tfs*30)

Variant ID: 1-94496589-TG-T

NM_000350.2(ABCA4):c.4216del;(p.H1406Tfs*30)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology
Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B
Publication Date: 2017

Variant appearance in text: N/A
PubMed Link: 28912967
Variant Present in the following documents:
View BVdb publication page



A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Genetic Testing And Molecular Biomarkers
Ramkumar, Hema L HL; Gudiseva, Harini V HV; Kishaba, Kameron T KT; Suk, John J JJ; Verma, Rohan R; Tadimeti, Keerti K; Thorson, John A JA; Ayyagari, Radha R
Publication Date: 2017-02

Variant appearance in text: ABCA4: 4216delC
PubMed Link: 28005406
Variant Present in the following documents:
  • Main text
View BVdb publication page