NRL Chromosome 14
Neural retina leucine zipper
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What This Gene Does
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Large MAF bZIP transcription factor family
Locus Type
gene with protein product
Location
14q11.2-q12
Ensembl
ENSG00000129535
Associated Conditions (6)
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 27
NRL-related disorder
ENHANCED S-CONE SYNDROME 2
Enhanced S-cone syndrome
Key Variants
RS199691910
Conflicting classifications of pathogenicity
Health Risk
RS201970559
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS2036353653
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 27, Retinitis pigmentosa 27
Health Risk
RS761024023
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 27, NRL-related disorder
Health Risk
RS774348345
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS901811301
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS936140196
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS104894463
Likely pathogenic
ENHANCED S-CONE SYNDROME 2, ENHANCED S-CONE SYNDROME 2
Health Risk
RS1350116482
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2036279881
Likely pathogenic
Retinitis pigmentosa 27, Retinitis pigmentosa 27
Health Risk
RS527236087
Likely pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS764142151
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199691910 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201970559 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2036353653 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 27, Retinitis pigmentosa 27 |
| RS761024023 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 27, NRL-related disorder |
| RS774348345 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS901811301 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS936140196 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS104894463 | Health Risk | Likely pathogenic | ENHANCED S-CONE SYNDROME 2, ENHANCED S-CONE SYNDROME 2 |
| RS1350116482 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2036279881 | Health Risk | Likely pathogenic | Retinitis pigmentosa 27, Retinitis pigmentosa 27 |
| RS527236087 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS764142151 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1182598654 | Health Risk | Pathogenic | — |
| RS1217980053 | Health Risk | Pathogenic | — |
| RS1271185594 | Health Risk | Pathogenic | — |
| RS1566561006 | Health Risk | Pathogenic | Retinitis pigmentosa 27, Retinal dystrophy, Retinitis pigmentosa 27 |
| RS1594246708 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2138874584 | Health Risk | Pathogenic | — |
| RS2138875137 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2138876322 | Health Risk | Pathogenic | — |
| RS2502523912 | Health Risk | Pathogenic | — |
| RS747791819 | Health Risk | Pathogenic | — |
| RS763191889 | Health Risk | Pathogenic | Retinitis pigmentosa 27, ENHANCED S-CONE SYNDROME 2, Retinitis pigmentosa 27 |
| RS780877716 | Health Risk | Pathogenic | — |
| RS794727281 | Health Risk | Pathogenic | Retinitis pigmentosa 27, Retinitis pigmentosa 27 |
| RS104894459 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 27, Retinal dystrophy, Retinitis pigmentosa 27 |
| RS1566560531 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 27, Retinitis pigmentosa 27 |
| RS2036353932 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS762991211 | Health Risk | Pathogenic/Likely pathogenic | Enhanced S-cone syndrome, Retinitis pigmentosa 27, Enhanced S-cone syndrome |
| RS768178406 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |