Gene
CDHR1
cadherin related family member 1
- HGNC 14550(opens in a new tab)
- Ensembl gene ENSG00000148600(opens in a new tab)
- NCBI Gene 92211(opens in a new tab)
Summary
- Cytogenetic location
- 10q23.1
- Coordinates
- Chromosome 10: 84,194,537–84,218,694 (GRCh38)
- Exons
- 17 exons across 24.2 kb
- Protein
- 859 amino acids
- Also known as
- KIAA1775, CORD15, RP65
- Previous symbols
- PCDH21
- MANE Select transcript
- ENST00000623527.4NM_033100.4
- 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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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.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How CDHR1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 6.9 kb of the gene's 24.2 kb; 2,580 of those bases code for the protein.
How a genome test reads CDHR1
25
positions in CDHR1 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 24.2 kb of CDHR1, introns included, not only the 6.9 kb of exons.
Traits linked to CDHR1
The Human Phenotype Ontology lists these as features of the rare conditions CDHR1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Progressive loss of vision
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Difficulties with night vision
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
Show 25 more traits
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal color vision
- Abnormal full-field electroretinogram
- Blind spot located at fixation point
- Bulging cornea
- Color blindness
- Cystoid macular edema
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Decreased clarity of vision
- Metamorphopsia
- Photopsia
- Limited peripheral vision
- Retinal pigment epithelial atrophy
- Rod-cone dystrophy
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.). CDHR1 gene: cadherin related family member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/cdhr1
Dante Labs. CDHR1 gene: cadherin related family member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cdhr1
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