Gene entry
RLBP1
retinaldehyde binding protein 1
- Chromosome
- 15
- Cytoband
- 15q26.1
- Variants (rsID)
- 16
RLBP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q26.1). Its official name is “retinaldehyde binding protein 1”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs140570189Benignsingle nucleotide variant
- rs2710Benignsingle nucleotide variantPigmentary retinal dystrophy|Newfoundland cone-rod dystrophy|Retinitis pigmentosa
- rs142244640Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Newfoundland cone-rod dystrophy|Pigmentary retinal dystrophy
- rs137853290Pathogenicsingle nucleotide variantPigmentary retinal dystrophy|Retinitis punctata albescens|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa
- rs137853291Pathogenicsingle nucleotide variantRetinitis punctata albescens|RLBP1-Related Disorders|Retinitis pigmentosa|Retinal dystrophy
- rs28933990Pathogenicsingle nucleotide variantRetinitis punctata albescens|Bothnia retinal dystrophy|RLBP1-Related Disorders|Retinitis pigmentosa
- rs760650165Pathogenicsingle nucleotide variantRLBP1-Related Disorders|Newfoundland cone-rod dystrophy
- rs116677006Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.