Gene
PRPF31-AS1
PRPF31 antisense RNA 1
- HGNC 40700↗(opens in a new tab)
- Ensembl gene ENSG00000237017↗(opens in a new tab)
- NCBI Gene 121832802↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.42
- Locus type
- Long non-coding RNA (lncRNA)
This page as data
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Sequencing PRPF31-AS1
5
positions in PRPF31-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 (5)
The PRPF31-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 5
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_015629.4(PRPF31):c.-9+1G>T (opens in a new tab) | retinitis pigmentosa and 1 other | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) (opens in a new tab) | retinitis pigmentosa and 1 other | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_015629.4(PRPF31):c.322+1G>A (opens in a new tab) | retinitis pigmentosa and 1 other | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) (opens in a new tab) | retinitis pigmentosa | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) (opens in a new tab) | retinitis pigmentosa 11 | Pathogenic | ★★★★1 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 2026.10.19-9814e911.
Cite this page
Dante Labs. (n.d.). PRPF31-AS1 gene: PRPF31 antisense RNA 1. Retrieved 20 October 2026, from https://dantelabs.com/genes/prpf31-as1
Dante Labs. PRPF31-AS1 gene: PRPF31 antisense RNA 1 [Internet]. [cited 20 October 2026]. Available from: https://dantelabs.com/genes/prpf31-as1
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