Gene
CLRN1
clarin 1
- HGNC 12605↗(opens in a new tab)
- Ensembl gene ENSG00000163646↗(opens in a new tab)
- NCBI Gene 7401↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q25.1
- Coordinates
- Chromosome 3: 150,926,567–150,972,727 (GRCh38)
- Exons
- 3 exons across 46.2 kb
- Protein
- 232 amino acids
- Inheritance
- Autosomal recessive
- Previous symbols
- USH3, USH3A, RP61
- MANE Select transcript
- ENST00000327047.6NM_174878.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Usher Syndrome
- Autosomal recessive
A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.
Broader groupings
Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 2 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How CLRN1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.1 kb of the gene's 46.2 kb; 699 of those bases code for the protein.
How a genome test reads CLRN1
58
positions in CLRN1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 46.2 kb of CLRN1, introns included, not only the 2.1 kb of exons.
Genes linked to the same conditions
- USH2AusherinShares 2 conditions
- ABCA4ATP binding cassette subfamily A member 4Shares 1 condition
- ADGRV1adhesion G protein-coupled receptor V1Shares 1 condition
- AGBL5AGBL carboxypeptidase 5Shares 1 condition
- AHRaryl hydrocarbon receptorShares 1 condition
- ARHGEF18Rho/Rac guanine nucleotide exchange factor 18Shares 1 condition
- ARL2BPARF like GTPase 2 binding proteinShares 1 condition
- ARL3ARF like GTPase 3Shares 1 condition
- ARL6ARF like GTPase 6Shares 1 condition
- ARSGarylsulfatase GShares 1 condition
- BBS2Bardet-Biedl syndrome 2Shares 1 condition
- BEST1bestrophin 1Shares 1 condition
Traits linked to CLRN1
The Human Phenotype Ontology lists these as features of the rare conditions CLRN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Decreased clarity of vision
- Rod-cone dystrophy
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blind spot
- Blindness
- Difficulties with night vision
- Extreme sensitivity of the eyes to light
Show 26 more traits
- Involuntary, rapid, rhythmic eye movements
- Light eye color
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Visual loss
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Partial loss of field of vision
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Abnormal color vision
- Photopsia
- Abnormal fundus pigmentation
- Limited peripheral vision
- Undetectable light- and dark-adapted electroretinogram
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CLRN1 gene: clarin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/clrn1
Dante Labs. CLRN1 gene: clarin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/clrn1
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