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 of function. 8 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 ...