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TSC2 c.790dup ;(p.L264Pfs*74)
Variant ID: 16-2107119-T-TC
NM_000548.3(
TSC2
):c.790dup;(p.L264Pfs*74)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.
Genetics And Molecular Biology
Wang, Wenda W; Zhao, Yang Y; Wang, Xu X; Wang, Zhan Z; Cai, Yi Y; Li, Hanzhong H; Zhang, Yushi Y
Publication Date: 2022
Variant appearance in text: TSC2: 788_789insC
PubMed Link:
35638823
Variant Present in the following documents:
Main text
1415-4757-GMB-45-2-e20200387.pdf
View BVdb publication page
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12
Variant appearance in text: TSC2: 788_789insC
PubMed Link:
31927531
Variant Present in the following documents:
aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page
Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.
Oncology Letters
Li, Shuqiang S; Zhang, Yushi Y; Wei, Jinxing J; Zhang, Xuepei X
Publication Date: 2017-12
Variant appearance in text: TSC2: 788_789insC
PubMed Link:
29344138
Variant Present in the following documents:
Main text
ol-14-06-7085.pdf
View BVdb publication page