TSC2 c.2988del ;(p.S997Vfs*19)

Variant ID: 16-2129052-AC-A

NM_000548.3(TSC2):c.2988del;(p.S997Vfs*19)

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:

Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

Frontiers In Medicine
Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y
Publication Date: 2021

Variant appearance in text: TSC2: 2988del; Ser997Valfs*19
PubMed Link: 34901059
Variant Present in the following documents:
  • Main text
  • fmed-08-744050.pdf
View BVdb publication page