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FBN1 c.5377_5378delinsAC ;(p.C1793T)
Variant ID: 15-48748878-CA-GT
NM_000138.4(
FBN1
):c.5377_5378delinsAC;(p.C1793T)
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:
Genes and abdominal aortic aneurysm.
Annals Of Vascular Surgery
Hinterseher, Irene I; Tromp, Gerard G; Kuivaniemi, Helena H
Publication Date: 2011-04
Variant appearance in text: FBN1: C1793T
PubMed Link:
21146954
Variant Present in the following documents:
Main text
View BVdb publication page