Bibliome.ai browser hg19
Search
About
Stats
FAQ
TSC2 c.3185_3188del ;(p.V1062Gfs*7)
Variant ID: 16-2129326-CTGGT-C
NM_000548.3(
TSC2
):c.3185_3188del;(p.V1062Gfs*7)
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:
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Translational Psychiatry
Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D
Publication Date: 2020-02-24
Variant appearance in text: TSC2: 3185_3188del; Val1062Glyfs*7
PubMed Link:
32094338
Variant Present in the following documents:
Main text
41398_2020_Article_760.pdf
View BVdb publication page