TSC2 c.5160+5G>T

Variant ID: 16-2138145-G-T

NM_000548.3(TSC2):c.5160+5G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports
Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A
Publication Date: 2020-04-20

Variant appearance in text: TSC2: 5160+5G>T; rs45515392
PubMed Link: 32313033
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_62759.pdf
View BVdb publication page



Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

Scientific Reports
Avgeris, Socratis S; Fostira, Florentia F; Vagena, Andromachi A; Ninios, Yiannis Y; Delimitsou, Angeliki A; Vodicka, Radek R; Vrtel, Radek R; Youroukos, Sotirios S; Stravopodis, Dimitrios J DJ; Vlassi, Metaxia M; Astrinidis, Aristotelis A; Yannoukakos, Drakoulis D; Voutsinas, Gerassimos E GE
Publication Date: 2017-12-01

Variant appearance in text: TSC2: 5160+5G>T
PubMed Link: 29196670
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16988.pdf
View BVdb publication page