FBN1 c.188A>G ;(p.Y63C)

Variant ID: 15-48905266-T-C

NM_000138.4(FBN1):c.188A>G;(p.Y63C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 188A>G; Tyr63Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: FBN1: 188A>G; Y63C
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics
Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G
Publication Date: 2020-02

Variant appearance in text: FBN1: 188A>G; Tyr63Cys
PubMed Link: 31506931
Variant Present in the following documents:
  • CGE-97-235-s003.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: 188A>G
PubMed Link: 25053872
Variant Present in the following documents:
  • Main text
  • mv-v20-1017.pdf
View BVdb publication page