Investigation Of Ultra-Rare De Novo Attention Deficit Hyperactivity Disorder (ADHD) Single Nucleotide Variants
I investigated the 17 single nucleotide variants that are some of the ultra-rare de novo variants that are found in children with Attention Deficit Hyperactivity Disorder (ADHD) according to July 2024 published 'Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes'. https://www.nature.com/articles/s41467-024-50247-7 5 are novel. 9 are Stop Gained aka Nonsense which are high impact variants in exons that can lead to loss function. Eight are Missense that are medium impact variants in exon, but one of them involves a Splice Donor that is a high impact varant in an intron that effects splicing (it is with one of the Missense variants). I used Varsome to get the In-Silico Predictions and HGVS information. I used Ensembl's Variant Effect Predictor (VEP) to get information about the Combined Annotation Dependent Depletion (CADD) scores. I used the HGVS information at ClinGen Allele Registry to get rsID, ClinVar i