FBN1 c.7956T>A ;(p.C2652*)

Variant ID: 15-48707828-A-T

NM_000138.4(FBN1):c.7956T>A;(p.C2652*)

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: 7956T>A; Cys2652Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Weerakkody, Ruwan R; Ross, David D; Parry, David A DA; Ziganshin, Bulat B; Vandrovcova, Jana J; Gampawar, Piyush P; Abdullah, Abdulshakur A; Biggs, Jennifer J; Dumfarth, Julia J; Ibrahim, Yousef Y; , ; Bicknell, Colin C; Field, Mark M; Elefteriades, John J; Cheshire, Nick N; Aitman, Timothy J TJ
Publication Date: 2018-11

Variant appearance in text: FBN1: 7956T>A; Cys2652Ter
PubMed Link: 29543232
Variant Present in the following documents:
  • Main text
  • emss-76135.pdf
View BVdb publication page