Documentation

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Publication Details

Results for Krgovic2022:

Summary

Title	Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
Authors	Krgovic, D., Gorenjak, M., Rihar, N., Opalic, I., Stangler Herodez, S., Gregoric Kumperscak, H., Dovc, P., Kokalj Vokac, N.
Technology	Whole exome sequencing
Variant source	Table 2. Description of patients clinical characteristics for molecular diagnostic referral and identified as pathogenic, likely pathogenic, and VUS variants in the genes.
Cohorts	Subset of patients with ASD from a large cohort of Slovenian children with NDD (PMID:29930340)
Design	simplex, multiplex, trios
URL	https://dx.doi.org/10.3389/fnmol.2022.912671
Pubmed	35813072
Subject count	49 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	8
frameshift insertion	4
nonsynonymous SNV	30
splicing	3
stopgain	7
synonymous SNV	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.