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FBN1 c.1109_1110insG ;(p.T371Hfs*5)
Variant ID: 15-48812893-G-GC
NM_000138.4(
FBN1
):c.1109_1110insG;(p.T371Hfs*5)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 1109_1110insG
PubMed Link:
20082464
Variant Present in the following documents:
Main text
View BVdb publication page