Documentation

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Publication Details

Results for Viggiano2022:

Summary

Title	Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
Authors	Viggiano, M., D’Andrea, T., Cameli, C., Posar, A., Visconti, P., Scaduto, M.C., Colucci, R., Rochat, M.J., Ceroni, F., Milazzo, G., Fucile, S., Maestrini, E., Bacchelli, E.
Technology	whole genome sequencing, targeted sequencing
Variant source	Supplementary Table S1, S2
Cohorts	UOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche (Bologna, Italy)
Design	multiplex, trios
URL	https://dx.doi.org/10.3389/fpsyt.2022.858238
Pubmed	35350424
Subject count	41 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	105
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
frameshift insertion	3
nonsynonymous SNV	97
splicing	3
stopgain	1

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.