FBN1 c.3932A>G ;(p.Y1311C)

Variant ID: 15-48773884-T-C

NM_000138.4(FBN1):c.3932A>G;(p.Y1311C)

This variant was identified in 2 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: 3932A>G; Tyr1311Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family.

International Journal Of Ophthalmology
Ouyang, Ping-Bo PB; Zhao, Yuan Y; Peng, Ying-Qian YQ; Zhang, Lu-Si LS; Cao, Jian J; Li, Yun Y
Publication Date: 2019

Variant appearance in text: FBN1: 3932A>G; Y1311C
PubMed Link: 31131229
Variant Present in the following documents:
  • Main text
View BVdb publication page