FBN1 c.347-4851G>A

Variant ID: 15-48897282-C-T

NM_000138.4(FBN1):c.347-4851G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

Nature Genetics
LeMaire, Scott A SA; McDonald, Merry-Lynn N ML; Guo, Dong-Chuan DC; Russell, Ludivine L; Miller, Charles C CC; Johnson, Ralph J RJ; Bekheirnia, Mir Reza MR; Franco, Luis M LM; Nguyen, Mary M; Pyeritz, Reed E RE; Bavaria, Joseph E JE; Devereux, Richard R; Maslen, Cheryl C; Holmes, Kathryn W KW; Eagle, Kim K; Body, Simon C SC; Seidman, Christine C; Seidman, J G JG; Isselbacher, Eric M EM; Bray, Molly M; Coselli, Joseph S JS; Estrera, Anthony L AL; Safi, Hazim J HJ; Belmont, John W JW; Leal, Suzanne M SM; Milewicz, Dianna M DM
Publication Date: 2011-09-11

Variant appearance in text: rs636178
PubMed Link: 21909107
Variant Present in the following documents:
  • Main text
View BVdb publication page