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TSC2 c.4369_4370delinsGC ;(p.R1457A)
Variant ID: 16-2134592-CG-GC
NM_000548.3(
TSC2
):c.4369_4370delinsGC;(p.R1457A)
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:
Stability of tuberous sclerosis complex 2 is controlled by methylation at R1457 and R1459.
Scientific Reports
Gen, Seishu S; Matsumoto, Yu Y; Kobayashi, Ken-Ichi KI; Suzuki, Tsukasa T; Inoue, Jun J; Yamamoto, Yuji Y
Publication Date: 2020-12-03
Variant appearance in text: TSC2: R1457A
PubMed Link:
33273660
Variant Present in the following documents:
Main text
41598_2020_78274_MOESM1_ESM.pdf
41598_2020_Article_78274.pdf
View BVdb publication page