CHASERR

Chr 15AD

CHD2 adjacent suppressive regulatory RNA

Also known as: LINC01578, NEDFSAB

Predicted to be involved in several processes, including adipose tissue development; regulation of gene expression; and thymus development. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalitiesMIM #621012
AD
16
ClinVar variants
15
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCHASERR
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 1 VUS of 16 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

16 submitted variants in ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS1
14
Pathogenic
1
Likely Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
Likely Pathogenic
1
VUS
1
Likely Benign
0
Benign
0
Total16

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CHASERR · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities

MIM #621012

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →