USH2A c.7814C>G ;(p.S2605*)

Variant ID: 1-216062177-G-C

NM_206933.2(USH2A):c.7814C>G;(p.S2605*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.

International Journal Of Molecular Sciences
Gill, Jasdeep S JS; Theofylaktopoulos, Vasileios V; Mitsios, Andreas A; Houston, Sarah S; Hagag, Ahmed M AM; Dubis, Adam M AM; Moosajee, Mariya M
Publication Date: 2022-04-11

Variant appearance in text: USH2: 7814C>G
PubMed Link: 35457016
Variant Present in the following documents:
  • ijms-23-04198.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: USH2A: S2605*
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page