Fig. 2: All 63 distinct GATOR1 variants identified in the new patient cohort. | Genetics in Medicine

Fig. 2: All 63 distinct GATOR1 variants identified in the new patient cohort.

From: The landscape of epilepsy-related GATOR1 variants

Fig. 2

For missense variants, Mendelian Clinically Applicable Pathogenicity (M-CAP) was used to predict possible pathogenic (D) or possible benign (B) variants. Human Splice Finder (HSF) v3.0 was used to discriminate splice-region variants with a possible impact on the splicing (D) and those not predicted to impact the splicing of mRNA (B). cDNA complementary DNA, VUS variant of uncertain significance, LoF loss of function, N/A not available. Recurrent variants are indicated in blue

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