NLGN1

Chr 3AD

neuroligin 1

Also known as: NL1, NLG1

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. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
ADLOEUF 0.371 OMIM phenotype
Clinical SummaryNLGN1
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
91 VUS of 129 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.37LOEUF
pLI 0.853
Z-score 4.06
OE 0.18 (0.090.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.22Z-score
OE missense 0.70 (0.640.77)
315 obs / 447.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.18 (0.090.37)
00.351.4
Missense OE?0.70 (0.640.77)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 5 / 28.3Missense obs/exp: 315 / 447.0Syn Z: 0.32

ClinVar Variant Classifications

129 submitted variants in ClinVar

Classification Summary

VUS91
Likely Benign20
Benign8
Conflicting1
91
VUS
20
Likely Benign
8
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
5
84
1
1
91
Likely Benign
0
13
1
6
20
Benign
0
0
0
8
8
Conflicting
1
Total597215120

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

21 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap NLGN1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

NLGN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →