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TSC2 c.557del ;(p.F186Sfs*16)
Variant ID: 16-2105476-AT-A
NM_000548.3(
TSC2
):c.557del;(p.F186Sfs*16)
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:
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: 557delT
PubMed Link:
31927531
Variant Present in the following documents:
aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.
Medicine
Gu, Xiaoyan X; Han, Ling L; Chen, Jian J; Wang, Jianbin J; Hao, Xiaoyan X; Zhang, Ye Y; Zhang, Jun J; Ge, Shuping S; He, Yihua Y
Publication Date: 2018-04
Variant appearance in text: TSC2: 557delT
PubMed Link:
29642139
Variant Present in the following documents:
Main text
medi-97-e0112.pdf
View BVdb publication page