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COL3A1 c.2680_2681delinsAC ;(p.G894T)
Variant ID: 2-189868726-GG-AC
NM_000090.3(
COL3A1
):c.2680_2681delinsAC;(p.G894T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.
Neurology
Alg, Varinder S VS; Sofat, Reecha R; Houlden, Henry H; Werring, David J DJ
Publication Date: 2013-06-04
Variant appearance in text: COL3A1: G894T
PubMed Link:
23733552
Variant Present in the following documents:
Main text
View BVdb publication page
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: COL3A1: G894T
PubMed Link:
21146954
Variant Present in the following documents:
Main text
View BVdb publication page