NLGN3, neuroligin 3, 54413

N. diseases: 63; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853147
rs878853147
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
CUI: C3714756
Disease:
Intellectual Disability
0.010 GeneticVariation BEFREE We investigated here the pathogenicity of additional missense variants identified in two multiplex families with intellectual disability (ID) and ASD: c.1789C>T, p.Arg597Trp, previously reported by our group (Redin et al. 31184401 2019