TSC2 c.3844_3846del ;(p.S1282del)

Variant ID: 16-2132464-CCAG-C

NM_000548.3(TSC2):c.3844_3846del;(p.S1282del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Human Mutation
Ekong, Rosemary R; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Wentink, Marjolein M; Panzer, Jessica J; Sparagana, Steven S; Emmett, Warren W; Dawson, Natalie L NL; Malinge, Marie Claire MC; Nabbout, Rima R; Carbonara, Caterina C; Barberis, Marco M; Padovan, Sergio S; Futema, Marta M; Plagnol, Vincent V; Humphries, Steve E SE; Migone, Nicola N; Povey, Sue S
Publication Date: 2016-04

Variant appearance in text: TSC2: S1282delins
PubMed Link: 26703369
Variant Present in the following documents:
  • Main text
  • HUMU-37-364.pdf
View BVdb publication page