Bibliome.ai browser hg19
Search
About
Stats
FAQ
TSC2 c.759C>A ;(p.C253*)
Variant ID: 16-2106755-C-A
NM_000548.3(
TSC2
):c.759C>A;(p.C253*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: TSC2: 759C>A; Cys253Ter
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15
Variant appearance in text: TSC2: 759C>A; C253*
PubMed Link:
24271014
Variant Present in the following documents:
Main text
View BVdb publication page