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Publication Details

Results for Nakajima2014:

Summary

Title	De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy
Authors	J. Nakajima
Technology	Whole exome sequencing
Variant source	Table S2. In silico predictions of pathogenicity of two novel EEF1A2 mutations
Cohorts
Design	Simplex
URL	https://dx.doi.org/10.1111/cge.12394
Pubmed	24697219
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	2
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	2

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.