Gene
RS1
retinoschisin 1
- HGNC 10457(opens in a new tab)
- Ensembl gene ENSG00000102104(opens in a new tab)
- NCBI Gene 6247(opens in a new tab)
Summary
- Cytogenetic location
- Xp22.13
- Coordinates
- Chromosome X: 18,639,688–18,672,108 (GRCh38)
- Exons
- 6 exons across 32.4 kb
- Protein
- 224 amino acids
- Also known as
- XLRS1
- Previous symbols
- RS
- MANE Select transcript
- ENST00000379984.4NM_000330.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Vitreoretinopathy
- Vitreoretinal Degeneration
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
How RS1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 32.4 kb; 675 of those bases code for the protein.
How a genome test reads RS1
149
positions in RS1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 32.4 kb of RS1, introns included, not only the 3 kb of exons.
Variants with a page (108)
The RS1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A18T | c.52G>A | Exon 1 | 18,672,017 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 18,672,068 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+1G>A | Intron 1 | 18,672,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+1G>C | Intron 1 | 18,672,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+1G>T | Intron 1 | 18,672,016 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+2T>A | Intron 1 | 18,672,015 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.52+2T>C | Intron 1 | 18,672,015 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.53-1G>A | Intron 1 | 18,657,666 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.53-713_78+266del | Intron 2 | 18,657,373 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.78+1G>A | Intron 2 | 18,657,639 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to RS1
The Human Phenotype Ontology lists these as features of the rare conditions RS1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RS1 gene: retinoschisin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/rs1
Dante Labs. RS1 gene: retinoschisin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rs1
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