TSC2 c.2006C>T ;(p.P669L)

Variant ID: 16-2121844-C-T

NM_000548.3(TSC2):c.2006C>T;(p.P669L)

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: P669L; rs794727221
PubMed Link: 29167182
Variant Present in the following documents:
  • Main text
  • erc-25-L1.pdf
View BVdb publication page