Documentation

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Publication Details

Results for Chan2019:

Summary

Title	Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
Authors	Chan, A.J.S., Cytrynbaum, C., Hoang, N., Ambrozewicz, P.M., Weksberg, R., Drmic, I., Ritzema, A., Schachar, R., Walker, S., Uddin, M., Zarrei, M., Yuen, R.K.C., Scherer, S.W.
Technology	Whole genome sequencing, Whole exome sequencing, Targeted sequencing
Variant source	Supplementary Data: Reported KMT2A mutations (n=188), including the 6 new patients reported in this paper.
Cohorts	Hospital for Sick Children
Design	Simplex
URL	https://dx.doi.org/10.1038/s41525-019-0083-x
Pubmed	31044088
Subject count	18 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	18
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	6
nonsynonymous SNV	7
other	1
splicing	1
stopgain	3

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.