FBN1 c.3202T>C ;(p.C1068R)

Variant ID: 15-48780571-A-G

NM_000138.4(FBN1):c.3202T>C;(p.C1068R)

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: 3202T>C; Cys1068Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One
Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA
Publication Date: 2021

Variant appearance in text: FBN1: 3202T>C; Cys1068Arg
PubMed Link: 33735269
Variant Present in the following documents:
  • pone.0248532.s001.xlsx, sheet 1
View BVdb publication page



Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European Journal Of Human Genetics : Ejhg
Faivre, L L; Collod-Beroud, G G; Callewaert, B B; Child, A A; Binquet, C C; Gautier, E E; Loeys, B L BL; Arbustini, E E; Mayer, K K; Arslan-Kirchner, M M; Stheneur, C C; Kiotsekoglou, A A; Comeglio, P P; Marziliano, N N; Wolf, J E JE; Bouchot, O O; Khau-Van-Kien, P P; Beroud, C C; Claustres, M M; Bonithon-Kopp, C C; Robinson, P N PN; Adès, L L; De Backer, J J; Coucke, P P; Francke, U U; De Paepe, A A; Jondeau, G G; Boileau, C C
Publication Date: 2009-04

Variant appearance in text: FBN1: 3202T>C; Cys1068Arg
PubMed Link: 19002209
Variant Present in the following documents:
  • Main text
View BVdb publication page