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TSC2 c.5238C>T ;(p.H1746=)
Variant ID: 16-2138305-C-T
NM_000548.3(
TSC2
):c.5238C>T;(p.H1746=)
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:
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: His1746His
PubMed Link:
31927531
Variant Present in the following documents:
Main text
aging-12-102654.pdf
View BVdb publication page