TSC2 c.4767G>T ;(p.P1589=)

Variant ID: 16-2136298-G-T

NM_000548.3(TSC2):c.4767G>T;(p.P1589=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: TSC2: 4767G>T
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Kidney International
Consugar, Mark B MB; Wong, Wai C WC; Lundquist, Patrick A PA; Rossetti, Sandro S; Kubly, Vickie J VJ; Walker, Denise L DL; Rangel, Laureano J LJ; Aspinwall, Richard R; Niaudet, W Patrick WP; Ozen, Seza S; David, Albert A; Velinov, Milen M; Bergstralh, Eric J EJ; Bae, Kyongtae T KT; Chapman, Arlene B AB; Guay-Woodford, Lisa M LM; Grantham, Jared J JJ; Torres, Vicente E VE; Sampson, Julian R JR; Dawson, Brian D BD; Harris, Peter C PC; ,
Publication Date: 2008-12

Variant appearance in text: TSC2: P1589P
PubMed Link: 18818683
Variant Present in the following documents:
  • Main text
View BVdb publication page