FBN1 c.860A>G ;(p.E287G)

Variant ID: 15-48826279-T-C

NM_000138.4(FBN1):c.860A>G;(p.E287G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: MFS1: 860A>G
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Orphanet Journal Of Rare Diseases
Campens, Laurence L; Callewaert, Bert B; MuiƱo Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J
Publication Date: 2015-02-03

Variant appearance in text: FBN1: 860A>G; Glu287Gly
PubMed Link: 25644172
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_221.pdf
View BVdb publication page