rs1057518672
- Pathogenic
Your Genotype
Sign InDescription
Our laboratory reported two molecular diagnoses, a variant in SOX11 (NM_003108.3:c.1286G>A) and a 17q11.2 duplication, in an individual with delayed motor milestones, delayed speech, intellectual disability, autism, attention deficit hyperactivity disorder, aggression, oppositional defiant disorder, episodes of staring spells, and mild dysmorphic features (incomplete synophrys and short pedal digits).
Reference Allele
G
Alternative Allele
A
Chromosome
2
Location
5694007
Variant Type
SNP
Genes
ClinVar
Name
NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter)
Allele
A
Clinical Significance
Pathogenic