ABCA4 c.3794C>G ;(p.S1265C)

Variant ID: 1-94502720-G-C

NM_000350.2(ABCA4):c.3794C>G;(p.S1265C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Publication Date: 2021

Variant appearance in text: rs531449824
PubMed Link: 34721006
Variant Present in the following documents:
  • datasheet1.pdf
View BVdb publication page



Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science
Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A
Publication Date: 2016-11-01

Variant appearance in text: ABCA4: S1265C
PubMed Link: 27898983
Variant Present in the following documents:
  • iovs-57-14-17_s03.xlsx, sheet 1
View BVdb publication page