FBN1 c.385T>A ;(p.C129S)

Variant ID: 15-48892393-A-T

NM_000138.4(FBN1):c.385T>A;(p.C129S)

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: 385T>A; Cys129Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.

The British Journal Of Ophthalmology
Yang, Yuan Y; Zhou, Ya-Li YL; Yao, Teng-Teng TT; Pan, Hui H; Gu, Ping P; Wang, Zhao-Yang ZY
Publication Date: 2021-03

Variant appearance in text: FBN1: Cys129Ser
PubMed Link: 32404357
Variant Present in the following documents:
  • bjophthalmol-2019-315265.pdf
View BVdb publication page