Table 3. Types of Mutations Observed in TSC2 (n=1234)

Mutation TypePercent of TSC2 Mutations
Small deletions and insertions~29%
Large deletions and rearrangements~7.8%

Estimated percentages from LOVD

From: Tuberous Sclerosis Complex

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2014.
Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

For more information, see the GeneReviews Copyright Notice and Usage Disclaimer.

For questions regarding permissions: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.