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NOA3

Chr 22

origin of replication NOA3

Based on the provided information, NOA3 appears to be a DNA replication origin rather than a protein-coding gene. The RefSeq entry describes a regulatory DNA sequence that initiates DNA replication, not a gene that would cause pediatric neurogenetic disease through mutations. Without additional clinical or phenotypic data provided, no disease associations or inheritance patterns can be described for this genomic region.

ResearchSummary from RefSeq
Clinical SummaryNOA3
📋
ClinVar Variants
6 unique Pathogenic / Likely Pathogenic of 7 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NOA3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

7 submitted variants in ClinVar

Classification Summary

Pathogenic6
6
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total6

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NOA3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
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