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TSC2 c.2920G>A ;(p.A974T)
Variant ID: 16-2127681-G-A
NM_000548.3(
TSC2
):c.2920G>A;(p.A974T)
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:
TSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias.
Endocrine-Related Cancer
Asprino, Paula Fontes PF; Linck, Rudinei Diogo Marques RDM; Cesar, Jônatas J; Freitas, Florêncio Porto FP; Koyama, Fernanda Christtanini FC; Riechelmann, Rachel Simões Pimenta RSP; Costa, Frederico Perego FP; Hoff, Paulo Marcelo Gehm PMG; Galante, Pedro Alexandre Favoretto PAF; Meyer, Diogo D; Camargo, Anamaria Aranha AA; Sabbaga, Jorge J
Publication Date: 2018-02
Variant appearance in text: TSC2: A974T; rs556778889
PubMed Link:
29167182
Variant Present in the following documents:
Main text
erc-25-L1.pdf
View BVdb publication page