TSC2 c.4375_4376delinsGC ;(p.R1459A)

Variant ID: 16-2134598-CG-GC

NM_000548.3(TSC2):c.4375_4376delinsGC;(p.R1459A)

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: R1459A
PubMed Link: 33273660
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_78274.pdf
  • 41598_2020_78274_MOESM1_ESM.pdf
View BVdb publication page