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Gene

EP300-AS1

EP300 antisense RNA 1

Summary

Cytogenetic location
22q13.2
Locus type
Long non-coding RNA (lncRNA)

Curated reports relevant to this gene

No Genome Test report reads EP300-AS1 yet. The test sequences your whole genome, so your data includes it all the same.

Sequencing EP300-AS1

2

positions in EP300-AS1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

ClinVar pathogenic variants (2)

The EP300-AS1 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Pathogenic 1
  • Likely pathogenic 1
VariantConditionsClinVar classificationReview status
NM_001429.4(EP300):c.4649dup (p.Lys1551fs) (opens in a new tab)Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyPathogenic1 star out of 4 criteria provided, single submitter
NM_001429.4(EP300):c.5894dup (p.Met1965fs) (opens in a new tab)Rubinstein-Taybi syndrome and 1 otherLikely pathogenic1 star out of 4 criteria provided, single submitter

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). EP300-AS1 gene: EP300 antisense RNA 1. Retrieved 19 October 2026, from https://dantelabs.com/genes/ep300-as1

Vancouver

Dante Labs. EP300-AS1 gene: EP300 antisense RNA 1 [Internet]. [cited 19 October 2026]. Available from: https://dantelabs.com/genes/ep300-as1

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