TSC2 c.5049_5050insGG ;(p.S1684Gfs*143)

Variant ID: 16-2137922-T-TGG

NM_000548.3(TSC2):c.5049_5050insGG;(p.S1684Gfs*143)

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:

Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease.

Cancer
Wu, Junlong J; Wang, Hongkai H; Ricketts, Christopher J CJ; Yang, Youfeng Y; Merino, Maria J MJ; Zhang, Hailiang H; Shi, Guohai G; Gan, Hualei H; Linehan, W Marston WM; Zhu, Yao Y; Ye, Dingwei D
Publication Date: 2019-04-01

Variant appearance in text: TSC2: 5049_5050insGG
PubMed Link: 30548481
Variant Present in the following documents:
  • Main text
View BVdb publication page