FBN1 c.813C>G ;(p.C271W)

Variant ID: 15-48826326-G-C

NM_000138.4(FBN1):c.813C>G;(p.C271W)

This variant was identified in 4 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: 813C>G; Cys271Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics
Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G
Publication Date: 2020-02

Variant appearance in text: FBN1: 813C>G; Cys271Trp
PubMed Link: 31506931
Variant Present in the following documents:
  • CGE-97-235-s003.xlsx, sheet 1
View BVdb publication page



Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Journal Of The American Heart Association
Mariscalco, Giovanni G; Debiec, Radoslaw R; Elefteriades, John A JA; Samani, Nilesh J NJ; Murphy, Gavin J GJ
Publication Date: 2018-08-07

Variant appearance in text: FBN1: 813C>G; Cys271Trp
PubMed Link: 30371227
Variant Present in the following documents:
  • JAH3-7-e009302.pdf
  • JAH3-7-e009302-s001.pdf
View BVdb publication page



Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Clinical Genetics
Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM
Publication Date: 2016-06

Variant appearance in text: FBN1: 813C>G; Cys271Trp
PubMed Link: 26621581
Variant Present in the following documents:
  • Main text
View BVdb publication page