TSC2 c.3712_3715del ;(p.A1238Sfs*86)

Variant ID: 16-2131695-CGGCT-C

NM_000548.3(TSC2):c.3712_3715del;(p.A1238Sfs*86)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC2: 3712_3715del; Ala1238Serfs*86
PubMed Link: 32555378
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_66588.pdf
  • 41598_2020_66588_MOESM1_ESM.pdf
View BVdb publication page