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Publication Details

Results for Ben-Shalom2017:

Summary
Title Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
AuthorsBen-Shalom, R., Keeshen, C.M., Berrios, K.N., An, J.Y., Sanders, S.J., Bender, K.J.
TechnologyTargeted sequencing (1 gene)
Variant sourceTable S1 Supplement 2: SCN2A variants
CohortsPubMed
DesignSimplex/Multiplex
URLhttps://dx.doi.org/10.1016/j.biopsych.2017.01.009
Pubmed28256214
Subject count25
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 count25
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion2
frameshift insertion1
nonsynonymous SNV13
splicing3
stopgain6

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.