USH2A c.9328C>T ;(p.P3110S)

Variant ID: 1-216011376-G-A

NM_206933.2(USH2A):c.9328C>T;(p.P3110S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome.

The British Journal Of Ophthalmology
Jones, Lee L; Moosajee, Mariya M
Publication Date: 2021-11

Variant appearance in text: USH2A: Pro3110Ser
PubMed Link: 32933935
Variant Present in the following documents:
  • Main text
  • bjophthalmol-2020-317237.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: USH2A: P3110S
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page