ABCA4 c.300C>T ;(p.S100=)

Variant ID: 1-94576996-G-A

NM_000350.2(ABCA4):c.300C>T;(p.S100=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: ABCA4: 300C>T
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The proteomics of drusen.

Cold Spring Harbor Perspectives In Medicine
Crabb, John W JW
Publication Date: 2014-05-05

Variant appearance in text: ABCA4: S100s
PubMed Link: 24799364
Variant Present in the following documents:
  • Main text
View BVdb publication page