Documentation

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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
Authors	Lee, H., Lin, M.A., Kornblum, H.I., Papazian, D.M., Nelson, S.F.
Technology	Whole exome sequencing
Variant source	Table 1. Summary of rare protein-altering variants identified to be shared between the two affected identical twins
Cohorts
Design	Multiplex
URL	https://dx.doi.org/10.1093/hmg/ddu056
Pubmed	24501278
Subject count	2 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	12
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	8
stopgain	4

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.