Documentation

or

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
Authors	Ben-Shalom, R., Keeshen, C.M., Berrios, K.N., An, J.Y., Sanders, S.J., Bender, K.J.
Technology	Targeted sequencing (1 gene)
Variant source	Table S1 Supplement 2: SCN2A variants
Cohorts	PubMed
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1016/j.biopsych.2017.01.009
Pubmed	28256214
Subject count	25 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	25
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
frameshift insertion	1
nonsynonymous SNV	13
splicing	3
stopgain	6

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.