Documentation

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Publication Details

Results for Dingemans2022:

Summary

Title	The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Authors	Dingemans, A.J.M., Truijen, K.M.G., van de Ven, S., Bernier, R., Bongers, E.M.H.F., Bouman, A., de Graaff-Herder, L., Eichler, E.E., Gerkes, E.H., De Geus, C.M., van Hagen, J.M., Jansen, P.R., Kerkhof, J., Kievit, A.J.A., Kleefstra, T., Maas, S.M., de Man, S.A., McConkey, H., Patterson, W.G., Dobson, A.T., Prijoles, E.J., Sadikovic, B., Relator, R., Stevenson, R.E., Stumpel, C.T.R.M., Heijligers, M., Stuurman, K.E., Löhner, K., Zeidler, S., Lee, J.A., Lindy, A., Zou, F., Tedder, M.L., Vissers, L.E.L.M., de Vries, B.B.A.
Technology	unknown
Variant source	Supplemental table 1
Cohorts
Design	unknown
URL	https://dx.doi.org/https://doi.org/10.1038/s41398-022-02189-1
Pubmed	36182950
Subject count	53 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	53
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	7
frameshift insertion	3
frameshift substitution	2
nonsynonymous SNV	13
other	2
splicing	6
stopgain	20

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.