TSC2 c.1272G>C ;(p.L424=)

Variant ID: 16-2112512-G-C

NM_000548.3(TSC2):c.1272G>C;(p.L424=)

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:

Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease.

Cancer Science
Ishihara, Hiroki H; Yamashita, Satoshi S; Liu, Yu-Yu YY; Hattori, Naoko N; El-Omar, Omar O; Ikeda, Takashi T; Fukuda, Hironori H; Yoshida, Kazuhiko K; Takagi, Toshio T; Taneda, Sekiko S; Kondo, Tsunenori T; Nagashima, Yoji Y; Tanabe, Kazunari K; Ushijima, Toshikazu T
Publication Date: 2020-11

Variant appearance in text: TSC2: 1272G>C
PubMed Link: 32860304
Variant Present in the following documents:
  • Main text
  • CAS-111-4276.pdf
View BVdb publication page