TSC2 c.138+1G>A

Variant ID: 16-2098755-G-A

NM_000548.3(TSC2):c.138+1G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.

The Journal Of Investigative Dermatology
Nathan, Neera N; Tyburczy, Magdalena E ME; Hamieh, Lana L; Wang, Ji-An JA; Brown, G Thomas GT; Richard Lee, Chyi-Chia CC; Kwiatkowski, David J DJ; Moss, Joel J; Darling, Thomas N TN
Publication Date: 2016-02

Variant appearance in text: TSC2: 138+1G>A
PubMed Link: 26824744
Variant Present in the following documents:
  • Main text
  • NIHMS738379-supplement-supplement_1.pdf
  • nihms738379.pdf
View BVdb publication page



Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Bmc Bioinformatics
Faber, Kirsten K; Glatting, Karl-Heinz KH; Mueller, Phillip J PJ; Risch, Angela A; Hotz-Wagenblatt, Agnes A
Publication Date: 2011

Variant appearance in text: rs45517091
PubMed Link: 21992029
Variant Present in the following documents:
  • Main text
  • 1471-2105-12-S4-S2.pdf
  • 1471-2105-12-S4-S2-S1.pdf
View BVdb publication page