NRXN1 Chromosome 2

Neurexin 1
177 variants 177 Health Risk

Upload your DNA to see your personal genotypes for variants in NRXN1.

What This Gene Does
This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"Neurexins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000179915
Associated Conditions (12)
Pitt-Hopkins-like syndrome 2
History of neurodevelopmental disorder
Chromosome 2p16.3 deletion syndrome
Inborn genetic diseases
NRXN1-related disorder
Obesity
Intellectual disability
See cases
Adrenocortical carcinoma
hereditary
Autism spectrum disorder
Schizophrenia 17
Key Variants
RS1039999157
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS1057520338
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS112536447
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, History of neurodevelopmental disorder, Pitt-Hopkins-like syndrome 2
Health Risk
RS112638127
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS113028018
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS113067443
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome, Pitt-Hopkins-like syndrome 2
Health Risk
RS1259694734
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS1307802785
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
Health Risk
RS1324701043
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS141566634
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, NRXN1-related disorder, Pitt-Hopkins-like syndrome 2
Health Risk
RS1430859209
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
Health Risk
RS143446587
Conflicting classifications of pathogenicity
Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
Health Risk
All Variants (177)
RSID Category Clinical Significance Conditions
RS200335720 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200464704 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200468214 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200625614 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS200646155 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS200672080 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS200698497 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS200767650 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200792504 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome, Intellectual disability
RS200841589 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200865985 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200935246 Health Risk Conflicting classifications of pathogenicity Chromosome 2p16.3 deletion syndrome, Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS201029409 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS201118246 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS201150987 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, NRXN1-related disorder
RS201180707 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder, Pitt-Hopkins-like syndrome 2
RS201212909 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder, Pitt-Hopkins-like syndrome 2
RS201481698 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome, Inborn genetic diseases
RS201485014 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201530175 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201566733 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201674835 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201727684 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, NRXN1-related disorder
RS201735573 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201741449 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201802152 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Intellectual disability, Inborn genetic diseases
RS201818223 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome, Inborn genetic diseases
RS201837579 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, NRXN1-related disorder
RS201886024 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS201941844 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS202006815 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS202043138 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS202059067 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202231291 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2467370162 Health Risk Conflicting classifications of pathogenicity NRXN1-related disorder, NRXN1-related disorder
RS368240967 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS370837898 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS372311299 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome, Inborn genetic diseases
RS398123573 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS55640811 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS55923848 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Pitt-Hopkins-like syndrome 2, History of neurodevelopmental disorder
RS56161058 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS563089155 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS56402642 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, NRXN1-related disorder
RS574531814 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS587780407 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS587781101 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS748944452 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS750165040 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases, Chromosome 2p16.3 deletion syndrome
RS75137449 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
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