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TSC2 c.2915C>T ;(p.A972V)
Variant ID: 16-2127676-C-T
NM_000548.3(
TSC2
):c.2915C>T;(p.A972V)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genomic profiling of Chinese patients with urothelial carcinoma.
Bmc Cancer
Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S
Publication Date: 2021-02-15
Variant appearance in text: TSC2: 2915C>T; Ala972Val
PubMed Link:
33588785
Variant Present in the following documents:
12885_2021_7829_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: TSC2: 2915C>T; A972V
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.
Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020
Variant appearance in text: TSC2: 2915C>T; A972V
PubMed Link:
32373528
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Bmc Medical Genetics
Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W
Publication Date: 2019-05-30
Variant appearance in text: TSC2: 2915C>T; A972V
PubMed Link:
31146700
Variant Present in the following documents:
12881_2019_813_MOESM1_ESM.xls, sheet 1
View BVdb publication page