BCYRN1
Chr 2brain cytoplasmic RNA 1
Also known as: BC200, BC200a, LINC00004, NCRNA00004
This gene encodes a neural small non-coding RNA that regulates dendritic protein biosynthesis in neurons. Mutations in BCYRN1 cause autosomal recessive neurodevelopmental disorder with seizures and brain atrophy, typically manifesting in early childhood. The disorder primarily affects the central nervous system, leading to developmental delays, epilepsy, and progressive brain volume loss.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
30 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 18 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 8 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 1 |
| Total | — | 30 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BCYRN1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools