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TSC2 c.4573C>T ;(p.Q1525*)
Variant ID: 16-2135234-C-T
NM_000548.3(
TSC2
):c.4573C>T;(p.Q1525*)
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:
Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.
Genes
Simic, Dario D; Dummer, Reinhard R; Freiberger, Sandra N SN; Ramelyte, Egle E; Barysch, Marjam-Jeanette MJ
Publication Date: 2021-05-20
Variant appearance in text: TSC2: 4573C>T; Gln1525*
PubMed Link:
34065301
Variant Present in the following documents:
Main text
genes-12-00781.pdf
View BVdb publication page
Suppressed expression of autophagosomal protein LC3 in cortical tubers of tuberous sclerosis complex.
Brain Pathology (Zurich, Switzerland)
Miyahara, Hiroaki H; Natsumeda, Manabu M; Shiga, Atsushi A; Aoki, Hiroshi H; Toyoshima, Yasuko Y; Zheng, Yingjun Y; Takeuchi, Ryoko R; Murakami, Hiroatsu H; Masuda, Hiroshi H; Kameyama, Shigeki S; Izumi, Tatsuro T; Fujii, Yukihiko Y; Takahashi, Hitoshi H; Kakita, Akiyoshi A
Publication Date: 2013-05
Variant appearance in text: TSC2: Q1525X
PubMed Link:
22974335
Variant Present in the following documents:
Main text
View BVdb publication page