Documentation

or

Publication Details

Results for Sands2019:

Summary

Title	Autism and developmental disability caused by KCNQ3 gain-of-function variants
Authors	Sands, T.T., Miceli, F., Lesca, G., Beck, A.E., Sadleir, L.G., Arrington, D.K., Schönewolf‐Greulich, B., Moutton, S., Lauritano, A., Nappi, P., Soldovieri, M.V., Scheffer, I.E., Mefford, H.C., Stong, N., Heinzen, E.L., Goldstein, D.B., Perez, A.G., Kossoff, E.H., Stocco, A., Sullivan, J.A., Shashi, V., Gerard, B., Francannet, C., Bisgaard, A.-M., Tümer, Z., Willems, M., Rivier, F., Vitobello, A., Thakkar, K., Rajan, D.S., Barkovich, A.J., Weckhuysen, S., Cooper, E.C., Taglialatela, M., Cilio, M.R.,
Technology	Targeted sequencing, Whole Exome Sequencing
Variant source	Table 1
Cohorts	Baylor College of Medicine
Design	Case-only
URL	https://dx.doi.org/10.1002/ana.25522
Pubmed	31177578
Subject count	7 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	7
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	7

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.