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Publication Details

Results for Lee2014:

Summary
Title Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation
AuthorsLee, H., Lin, M.A., Kornblum, H.I., Papazian, D.M., Nelson, S.F.
TechnologyWhole exome sequencing
Variant sourceTable 1. Summary of rare protein-altering variants identified to be shared between the two affected identical twins
Cohorts
DesignMultiplex
URLhttps://dx.doi.org/10.1093/hmg/ddu056
Pubmed24501278
Subject count2
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 count12
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV8
stopgain4

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.