TSC2 c.4707C>A ;(p.Y1569*)

Variant ID: 16-2136238-C-A

NM_000548.3(TSC2):c.4707C>A;(p.Y1569*)

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:

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Translational Oncology
Park, Jeong Hwan JH; Lee, Cheol C; Chang, Mee Soo MS; Kim, Kwangsoo K; Choi, Seongmin S; Lee, Hyunjung H; Lee, Hyun-Seob HS; Moon, Kyung Chul KC
Publication Date: 2018-08

Variant appearance in text: TSC2: 4707C>A
PubMed Link: 29925043
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc3.xlsx, sheet 4
  • mmc3.xlsx, sheet 5
View BVdb publication page