FBN1 c.1759T>C ;(p.C587R)

Variant ID: 15-48800857-A-G

NM_000138.4(FBN1):c.1759T>C;(p.C587R)

This variant was identified in 3 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: 1759T>C; Cys587Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Molecular Medicine Reports
Zhou, Yijing Y; Guo, Dongwei D; Cao, Qianzhong Q; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D
Publication Date: 2021-04

Variant appearance in text: FBN1: Cys587Arg
PubMed Link: 33576469
Variant Present in the following documents:
  • Main text
  • mmr-23-04-11914.pdf
View BVdb publication page



Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

Molecular Vision
Liang, Chen C; Fan, Wei W; Wu, Sisi S; Liu, Yi Y
Publication Date: 2011

Variant appearance in text: FBN1: C587R
PubMed Link: 22219643
Variant Present in the following documents:
  • Main text
  • mv-v17-3481.pdf
View BVdb publication page