CLRN1 Chromosome 3
Clarin 1
Upload your DNA to see your personal genotypes for variants in CLRN1.
What This Gene Does
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Clarins
Locus Type
gene with protein product
Location
3q25.1
Ensembl
ENSG00000163646
Associated Conditions (10)
Usher syndrome type 3
Retinal dystrophy
Usher syndrome type 3A
Usher syndrome
Retinitis pigmentosa 61
CLRN1-related disorder
Hearing impairment
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis
Rare genetic deafness
Key Variants
RS121908143
Conflicting classifications of pathogenicity
Usher syndrome type 3, Retinal dystrophy, Usher syndrome type 3A
Health Risk
RS1287122500
Conflicting classifications of pathogenicity
Retinitis pigmentosa 61, Usher syndrome type 3A, Usher syndrome
Health Risk
RS139829306
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3
Health Risk
RS143232961
Conflicting classifications of pathogenicity
Usher syndrome type 3A, Retinal dystrophy, Usher syndrome type 3A
Health Risk
RS148752352
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3A, Usher syndrome type 3
Health Risk
RS1713844994
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3
Health Risk
RS187218889
Conflicting classifications of pathogenicity
Usher syndrome type 3A, Retinal dystrophy, Usher syndrome type 3A
Health Risk
RS200446881
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3
Health Risk
RS201534956
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3A, Usher syndrome type 3
Health Risk
RS3796241
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3A, Retinal dystrophy
Health Risk
RS397517930
Conflicting classifications of pathogenicity
Retinal dystrophy, Usher syndrome type 3, Retinal dystrophy
Health Risk
RS55842922
Conflicting classifications of pathogenicity
Usher syndrome type 3, Usher syndrome type 3
Health Risk
All Variants (86)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1576631624 | Health Risk | Pathogenic | Usher syndrome type 3, Usher syndrome type 3 |
| RS1576651623 | Health Risk | Pathogenic | Usher syndrome type 3, Usher syndrome type 3 |
| RS1713844309 | Health Risk | Pathogenic | — |
| RS1713859321 | Health Risk | Pathogenic | — |
| RS1715589813 | Health Risk | Pathogenic | Usher syndrome type 3A, Usher syndrome, Usher syndrome type 3A |
| RS2107927808 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2107927978 | Health Risk | Pathogenic | — |
| RS2107951359 | Health Risk | Pathogenic | — |
| RS2107996885 | Health Risk | Pathogenic | — |
| RS2472761631 | Health Risk | Pathogenic | — |
| RS2472761806 | Health Risk | Pathogenic | — |
| RS2472830632 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS373208120 | Health Risk | Pathogenic | Usher syndrome type 3A, Retinitis pigmentosa 61, Usher syndrome type 3A |
| RS374390376 | Health Risk | Pathogenic | Retinitis pigmentosa 61, Retinal dystrophy, Retinitis pigmentosa 61 |
| RS397517932 | Health Risk | Pathogenic | Usher syndrome type 3, Rare genetic deafness, Usher syndrome |
| RS762606406 | Health Risk | Pathogenic | Usher syndrome type 3A, Retinitis pigmentosa, Retinitis pigmentosa 61 |
| RS773036590 | Health Risk | Pathogenic | — |
| RS786204428 | Health Risk | Pathogenic | Usher syndrome type 3, Rare genetic deafness, Retinal dystrophy |
| RS1057517224 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 3A, Usher syndrome type 3A |
| RS121908140 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 3, Hearing impairment, Retinitis pigmentosa |
| RS1231668679 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Usher syndrome type 3A, Retinitis pigmentosa 61 |
| RS1380661508 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome, Retinitis pigmentosa 61, Usher syndrome type 3A |
| RS1715594024 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Neuronal ceroid lipofuscinosis, Retinal dystrophy |
| RS2472761635 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Neuronal ceroid lipofuscinosis, Retinitis pigmentosa 61 |
| RS2472830838 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Neuronal ceroid lipofuscinosis, Retinitis pigmentosa 61 |
| RS2472831238 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Retinitis pigmentosa 61 |
| RS2472831349 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Retinitis pigmentosa 61 |
| RS374963432 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 3, Rare genetic deafness, Usher syndrome |
| RS376155416 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 3, Retinitis pigmentosa 61, Usher syndrome type 3A |
| RS745585873 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Retinitis pigmentosa 61 |
| RS746128095 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 61, Usher syndrome type 3A |
| RS746523071 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 3, Retinal dystrophy, Usher syndrome type 3A |
| RS752910161 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Retinitis pigmentosa 61 |
| RS767882032 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 61, Retinitis pigmentosa 61 |
| RS933370216 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 3, Usher syndrome type 3 |
| RS976853535 | Health Risk | Pathogenic/Likely pathogenic | — |