TSC2 c.538C>T ;(p.L180=)

Variant ID: 16-2105459-C-T

NM_000548.3(TSC2):c.538C>T;(p.L180=)

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:

Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Scientific Reports
Marzouka, Nour-Al-Dain NA; Lindgren, David D; Eriksson, Pontus P; Sjödahl, Gottfrid G; Bernardo, Carina C; Liedberg, Fredrik F; Axelson, Håkan H; Höglund, Mattias M
Publication Date: 2020-11-11

Variant appearance in text: TSC2: 538C>T; L180L
PubMed Link: 33177554
Variant Present in the following documents:
  • 41598_2020_75854_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page