RLBP1 Chromosome 15
Retinaldehyde binding protein 1
Upload your DNA to see your personal genotypes for variants in RLBP1.
What This Gene Does
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CRAL-TRIO lipid binding domain containing
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140522
Associated Conditions (11)
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Bothnia retinal dystrophy
Retinal dystrophy
RLBP1-related disorder
Inborn genetic diseases
Retinitis punctata albescens
Autosomal recessive retinitis pigmentosa
Retinal disorder
Abnormality of the eye
Key Variants
RS1173705310
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy
Health Risk
RS138965708
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Bothnia retinal dystrophy, Newfoundland cone-rod dystrophy
Health Risk
RS142244640
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
Health Risk
RS143817941
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Retinitis pigmentosa
Health Risk
RS144254383
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Retinitis pigmentosa, Newfoundland cone-rod dystrophy
Health Risk
RS144615495
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy, Retinitis pigmentosa
Health Risk
RS144641995
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146844731
Conflicting classifications of pathogenicity
RLBP1-related disorder, RLBP1-related disorder
Health Risk
RS150636501
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy
Health Risk
RS181321141
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy
Health Risk
RS181863443
Conflicting classifications of pathogenicity
Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Retinitis pigmentosa
Health Risk
RS190236976
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1173705310 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy |
| RS138965708 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Bothnia retinal dystrophy, Newfoundland cone-rod dystrophy |
| RS142244640 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy |
| RS143817941 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Retinitis pigmentosa |
| RS144254383 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Retinitis pigmentosa, Newfoundland cone-rod dystrophy |
| RS144615495 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy, Retinitis pigmentosa |
| RS144641995 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146844731 | Health Risk | Conflicting classifications of pathogenicity | RLBP1-related disorder, RLBP1-related disorder |
| RS150636501 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy |
| RS181321141 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy |
| RS181863443 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy, Retinitis pigmentosa |
| RS190236976 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy |
| RS201153598 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS201865787 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy |
| RS201866933 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy |
| RS202116993 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Retinitis pigmentosa, Newfoundland cone-rod dystrophy |
| RS373881009 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy |
| RS62640017 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy |
| RS74029958 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy, Retinitis pigmentosa |
| RS772539351 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77384282 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy, Retinitis pigmentosa |
| RS775252439 | Health Risk | Conflicting classifications of pathogenicity | Newfoundland cone-rod dystrophy, Retinitis pigmentosa, Pigmentary retinal dystrophy |
| RS777120727 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS976229803 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1445909096 | Health Risk | Likely pathogenic | Newfoundland cone-rod dystrophy, Bothnia retinal dystrophy, Pigmentary retinal dystrophy |
| RS2051568716 | Health Risk | Likely pathogenic | RLBP1-related disorder, RLBP1-related disorder |
| RS2150970352 | Health Risk | Likely pathogenic | — |
| RS2505862930 | Health Risk | Likely pathogenic | Bothnia retinal dystrophy, Bothnia retinal dystrophy |
| RS2505863513 | Health Risk | Likely pathogenic | Bothnia retinal dystrophy, Bothnia retinal dystrophy |
| RS778665719 | Health Risk | Likely pathogenic | — |
| RS786205494 | Health Risk | Likely pathogenic | — |
| RS1185428793 | Health Risk | Pathogenic | — |
| RS1212807954 | Health Risk | Pathogenic | — |
| RS1264781571 | Health Risk | Pathogenic | — |
| RS137853290 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Retinitis punctata albescens, Autosomal recessive retinitis pigmentosa |
| RS1450389945 | Health Risk | Pathogenic | — |
| RS1567124404 | Health Risk | Pathogenic | Retinitis punctata albescens, Retinitis pigmentosa, Retinitis punctata albescens |
| RS1596184582 | Health Risk | Pathogenic | — |
| RS1596185276 | Health Risk | Pathogenic | — |
| RS2051530949 | Health Risk | Pathogenic | — |
| RS2051568988 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS2051588436 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2051605586 | Health Risk | Pathogenic | — |
| RS2150968520 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2150971257 | Health Risk | Pathogenic | Newfoundland cone-rod dystrophy, Bothnia retinal dystrophy, Pigmentary retinal dystrophy |
| RS2505860539 | Health Risk | Pathogenic | — |
| RS2505862898 | Health Risk | Pathogenic | — |
| RS2505865153 | Health Risk | Pathogenic | — |
| RS753849847 | Health Risk | Pathogenic | — |
| RS762326108 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |