NLGN3 Chromosome X
Neuroligin 3
Upload your DNA to see your personal genotypes for variants in NLGN3.
What This Gene Does
This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Neuroligins
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000196338
Associated Conditions (12)
Inborn genetic diseases
NLGN3-related disorder
Thyroid cancer
nonmedullary
1
Intellectual disability
Cone-rod dystrophy
Autism
susceptibility to
X-linked 1
Autistic behavior
Hypogonadotropic hypogonadism
Key Variants
RS143817848
Conflicting classifications of pathogenicity
Inborn genetic diseases, NLGN3-related disorder, Thyroid cancer
Health Risk
RS35794236
Conflicting classifications of pathogenicity
Inborn genetic diseases, NLGN3-related disorder, Inborn genetic diseases
Health Risk
RS376877146
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Cone-rod dystrophy
Health Risk
RS759656254
Conflicting classifications of pathogenicity
Health Risk
RS771275997
Conflicting classifications of pathogenicity
NLGN3-related disorder, NLGN3-related disorder
Health Risk
RS1460006418
Likely pathogenic
Autism, susceptibility to, X-linked 1
Health Risk
RS2147900685
Likely pathogenic
Autism, susceptibility to, X-linked 1
Health Risk
RS2147908798
Likely pathogenic
Autism, susceptibility to, X-linked 1
Health Risk
RS2519746029
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS878853147
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1569485503
Pathogenic
Intellectual disability, Autistic behavior, Intellectual disability
Health Risk
RS2519735876
Pathogenic
Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143817848 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NLGN3-related disorder, Thyroid cancer |
| RS35794236 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NLGN3-related disorder, Inborn genetic diseases |
| RS376877146 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, Cone-rod dystrophy |
| RS759656254 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771275997 | Health Risk | Conflicting classifications of pathogenicity | NLGN3-related disorder, NLGN3-related disorder |
| RS1460006418 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 1 |
| RS2147900685 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 1 |
| RS2147908798 | Health Risk | Likely pathogenic | Autism, susceptibility to, X-linked 1 |
| RS2519746029 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS878853147 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1569485503 | Health Risk | Pathogenic | Intellectual disability, Autistic behavior, Intellectual disability |
| RS2519735876 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |
| RS2519748934 | Health Risk | Pathogenic | Autism, susceptibility to, X-linked 1 |
| RS34927195 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121917893 | Health Risk | risk factor | Autism, susceptibility to, X-linked 1 |