Fig. 1: Map of all pathogenic variants identified in EPISTOP in TSC1 and TSC2. | Genetics in Medicine

Fig. 1: Map of all pathogenic variants identified in EPISTOP in TSC1 and TSC2.

From: TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

Fig. 1

(a, b) Position of variants of various kinds are indicated for each gene with frequency indicated by height of the lollipop. Multiple variants in the same position are shown in one color arbitrarily selected by Mutational Mapper in cBioPortal. Large genomic deletion variants are shown at the bottom, with red indicating the region of the gene that is deleted, and gray meaning that the deletion extends beyond the gene in that direction. (c) Pie chart showing relative numbers of TSC1, TSC2, and no variant identified (NMI) subjects.

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