Gene entry
CRB1
crumbs cell polarity complex component 1
- Chromosome
- 1
- Cytoband
- 1q31.3
- Variants (rsID)
- 63
CRB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q31.3). Its official name is “crumbs cell polarity complex component 1”. The reference table lists 63 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs114846212Benignsingle nucleotide variantLeber congenital amaurosis 8|Retinitis pigmentosa|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis
- rs116471343Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis 1|Retinitis pigmentosa 12
- rs137853138Conflicting interpretationssingle nucleotide variantPigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis 8|Retinitis pigmentosa|Leber congenital amaurosis 8|Retinitis pigmentosa 12
- rs144436610Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 8|Pigmented paravenous retinochoroidal atrophy|Retinitis pigmentosa|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Leber congenital amaurosis
- rs62636262Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 12|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis
- rs62645748Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 8|Retinitis pigmentosa 12|Retinal dystrophy|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis 8|CRB1-Related Disorders|Retinitis pigmentosa|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis
- rs114342808Pathogenicsingle nucleotide variantLeber congenital amaurosis 8|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis|Retinal dystrophy
- rs137853137Pathogenicsingle nucleotide variantRetinitis pigmentosa 12|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Retinal dystrophy|Retinitis pigmentosa|Leber congenital amaurosis 8|Leber congenital amaurosis
- rs281865175PathogenicDeletionRetinitis pigmentosa 12|Leber congenital amaurosis 8|Leber congenital amaurosis|Retinitis pigmentosa 12|Leber congenital amaurosis 8
- rs28939720Pathogenicsingle nucleotide variantRetinitis pigmentosa 12|Retinitis pigmentosa|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Leber congenital amaurosis 8|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis
- rs62635655Pathogenicsingle nucleotide variantRetinitis pigmentosa 12
- rs62635656Pathogenicsingle nucleotide variantRetinitis pigmentosa 12|CRB1-Related Disorders|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinal dystrophy|Leber congenital amaurosis 8
- rs62636267Pathogenicsingle nucleotide variantLeber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis 8
- rs62636273Pathogenicsingle nucleotide variantMacular dystrophy|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinal dystrophy|Leber congenital amaurosis 8|Leber congenital amaurosis|Retinitis pigmentosa 12|Retinitis pigmentosa
- rs62636275Pathogenicsingle nucleotide variantLeber congenital amaurosis 8|Retinitis pigmentosa 12|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Early-onset retinal dystrophy|Leber congenital amaurosis|Retinal dystrophy
- rs62636291Pathogenicsingle nucleotide variantRetinitis pigmentosa 12
Other listed variants
- rs517222
- rs949571
- rs949976
- rs1009188
- rs1337166
- rs2476020
- rs2786098
- rs2786105
- rs2786111
- rs2786119
- rs2984786
- rs3790370
- rs4418639
- rs7549171
- rs17618402
- rs61829561
- rs72740600
- rs74846670
- rs75051868
- rs75058452
- rs75058513
- rs76162489
- rs76165936
- rs76505423
- rs78622248
- rs78729372
- rs78749198
- rs78935001
- rs79000440
- rs79190876
- rs79273806
- rs79514177
- rs79963913
- rs111619944
- rs114264441
- rs114913030
- rs115212521
- rs115457091
- rs116345223
- rs116859964
- rs118095571
- rs142309385
- rs142721364
- rs148077202
- rs182181054
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.