FBN1 c.1955G>T ;(p.C652F)

Variant ID: 15-48797227-C-A

NM_000138.4(FBN1):c.1955G>T;(p.C652F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: FBN1: C652F
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

Molecular Vision
Li, Jie J; Jia, Xiaoyun X; Li, Shiqiang S; Fang, Shaohua S; Guo, Xiangming X
Publication Date: 2014

Variant appearance in text: FBN1: 1955G>T; Cys652Phe
PubMed Link: 25053872
Variant Present in the following documents:
  • Main text
  • mv-v20-1017.pdf
View BVdb publication page