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TSC2 c.2688G>A ;(p.W896*)
Variant ID: 16-2126117-G-A
NM_000548.3(
TSC2
):c.2688G>A;(p.W896*)
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:
Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.
Cancer Biology & Therapy
Wang, Tao T; Xie, Shunqiang S; Luo, Rongtuan R; Shi, Lianguo L; Bai, Peide P; Wang, Xuegang X; Wan, Rui R; Deng, Jiang J; Wu, Zhun Z; Li, Wei W; Xiao, Wen W; Wang, Yongfeng Y; Chen, Bin B; Zhang, Kaiyan K; Xing, Jinchun J
Publication Date: 2020
Variant appearance in text: TSC2: 2688G>A; W896*
PubMed Link:
31597506
Variant Present in the following documents:
Main text
View BVdb publication page