FBN1 c.4253_4259del ;(p.G1418Afs*55)

Variant ID: 15-48764824-GCACTGGC-G

NM_000138.4(FBN1):c.4253_4259del;(p.G1418Afs*55)

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: 4253_4259del; Gly1418fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



FBN1 mutations in patients with descending thoracic aortic dissections.

American Journal Of Medical Genetics. Part A
Brautbar, Ariel A; LeMaire, Scott A SA; Franco, Luis M LM; Coselli, Joseph S JS; Milewicz, Dianna M DM; Belmont, John W JW
Publication Date: 2010-02

Variant appearance in text: FBN1: 4253_4259delGCCAGTG
PubMed Link: 20082464
Variant Present in the following documents:
  • Main text
View BVdb publication page