ABCA4 c.4979C>T ;(p.P1660L)

Variant ID: 1-94486835-G-A

NM_000350.2(ABCA4):c.4979C>T;(p.P1660L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Investigative Ophthalmology & Visual Science
Corradi, Zelia Z; Salameh, Manar M; Khan, Mubeen M; Héon, Elise E; Mishra, Ketan K; Hitti-Malin, Rebekkah J RJ; AlSwaiti, Yahya Y; Aslanian, Alice A; Banin, Eyal E; Brooks, Brian P BP; Zein, Wadih M WM; Hufnagel, Robert B RB; Roosing, Susanne S; Dhaenens, Claire-Marie CM; Sharon, Dror D; Cremers, Frans P M FPM; AlTalbishi, Alaa A
Publication Date: 2022-04-01

Variant appearance in text: STGD1: 4979C>T
PubMed Link: 35475888
Variant Present in the following documents:
  • Main text
  • iovs-63-4-20_s002.pdf
  • iovs-63-4-20_s001.pdf
  • iovs-63-4-20.pdf
View BVdb publication page



Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Publication Date: 2017-01-01

Variant appearance in text: STGD: 4979C>T
PubMed Link: 28118664
Variant Present in the following documents:
  • iovs-57-15-69_s04.pdf
  • iovs-57-15-69_s05.pdf
View BVdb publication page