Skip to content
Use your HSA or FSA funds

Gene

CDH23

cadherin related 23

Summary

Cytogenetic location
10q22.1
Coordinates
Chromosome 10: 71,396,920–71,815,947 (GRCh38)
Exons
70 exons across 419 kb
Protein
3,354 amino acids
Inheritance
Autosomal recessive
Also known as
CDHR23
Previous symbols
DFNB12, USH1D
MANE Select transcript
ENST00000224721.12NM_022124.6
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated 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.

      • 3 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

  • Hearing Loss and Deafness

    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

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 CDH23 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 10, with a bracket where CDH23 sits. CDH23 and 9 genes near it on chromosome 10, from 70,977,892 to 72,234,975.Chromosome 1010q22.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.371 Mb71.2 Mb71.4 Mb71.6 Mb71.8 Mb72 Mb72.2 MbUNC5B: 71,212,523–71,302,885, forward strandUNC5BSLC29A3: 71,319,232–71,381,423, forward strandSLC29A3CDH23: 71,396,920–71,815,947, forward strandCDH23C10orf105: 71,711,701–71,737,838, reverse strandC10orf105VSIR: 71,747,556–71,773,608, reverse strandVSIRPSAP: 71,816,026–71,851,388, reverse strandPSAPCHST3: 71,963,538–72,019,147, forward strandCHST3SPOCK2: 72,059,016–72,089,032, reverse strandSPOCK2ASCC1: 72,092,153–72,217,653, reverse strandASCC1ANAPC16: 72,215,651–72,235,860, forward strandANAPC16Diagram of CDH23: 70 exons on the forward strand of chromosome 10Exon 2: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 5 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 18: 7 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 22: 9 known disease-causing sitesExon 23: 8 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 25: 11 known disease-causing sitesExon 26: 4 known disease-causing sitesExon 27: 4 known disease-causing sitesExon 28: 4 known disease-causing sitesExon 29: 2 known disease-causing sitesExon 30: 3 known disease-causing sitesExon 31: 6 known disease-causing sitesExon 32: 13 known disease-causing sitesExon 33: 1 known disease-causing siteExon 35: 8 known disease-causing sitesExon 36: 7 known disease-causing sitesExon 37: 3 known disease-causing sitesExon 38: 12 known disease-causing sitesExon 39: 3 known disease-causing sitesExon 40: 4 known disease-causing sitesExon 41: 9 known disease-causing sitesExon 42: 1 known disease-causing siteExon 43: 7 known disease-causing sitesExon 44: 5 known disease-causing sitesExon 45: 3 known disease-causing sitesExon 46: 4 known disease-causing sitesExon 47: 5 known disease-causing sitesExon 48: 32 known disease-causing sitesExon 49: 3 known disease-causing sitesExon 50: 14 known disease-causing sitesExon 51: 6 known disease-causing sitesExon 52: 4 known disease-causing sitesExon 54: 5 known disease-causing sitesExon 55: 7 known disease-causing sitesExon 56: 16 known disease-causing sitesExon 57: 4 known disease-causing sitesExon 58: 6 known disease-causing sitesExon 59: 13 known disease-causing sitesExon 60: 3 known disease-causing sitesExon 61: 9 known disease-causing sitesExon 62: 1 known disease-causing siteExon 63: 8 known disease-causing sitesExon 64: 5 known disease-causing sitesExon 65: 1 known disease-causing siteExon 66: 1 known disease-causing siteExon 67: 4 known disease-causing sitesExon 68: 6 known disease-causing sitesExon 69: 2 known disease-causing sitesExon 1: 71,396,920–71,397,318, 399 basesExon 2: 71,439,827–71,439,898, 72 basesExon 3: 71,446,318–71,446,395, 78 basesExon 4: 71,510,082–71,510,224, 143 basesExon 5: 71,510,954–71,511,001, 48 basesExon 6: 71,511,120–71,511,212, 93 bases. 1 variant with a page in exon 6. List themExon 7: 71,566,742–71,566,936, 195 basesExon 8: 71,570,790–71,570,918, 129 bases. 1 variant with a page in exon 8. List themExon 9: 71,577,914–71,577,992, 79 basesExon 10: 71,615,504–71,615,616, 113 basesExon 11: 71,617,205–71,617,393, 189 basesExon 12: 71,643,861–71,643,866, 6 basesExon 13: 71,645,831–71,645,980, 150 basesExon 14: 71,646,459–71,646,617, 159 basesExon 15: 71,675,112–71,675,176, 65 basesExon 16: 71,677,456–71,677,693, 238 basesExon 17: 71,679,387–71,679,492, 106 basesExon 18: 71,682,445–71,682,572, 128 basesExon 19: 71,687,647–71,687,719, 73 basesExon 20: 71,690,468–71,690,584, 117 basesExon 21: 71,694,147–71,694,259, 113 basesExon 22: 71,695,418–71,695,525, 108 basesExon 23: 71,702,022–71,702,211, 190 basesExon 24: 71,702,549–71,702,694, 146 basesExon 25: 71,704,911–71,705,130, 220 basesExon 26: 71,706,897–71,707,049, 153 basesExon 27: 71,709,098–71,709,211, 114 basesExon 28: 71,712,665–71,712,813, 149 basesExon 29: 71,724,045–71,724,105, 61 basesExon 30: 71,725,372–71,725,520, 149 basesExon 31: 71,730,469–71,730,604, 136 basesExon 32: 71,731,987–71,732,375, 389 basesExon 33: 71,734,240–71,734,341, 102 basesExon 34: 71,734,656–71,734,658, 3 basesExon 35: 71,738,498–71,738,647, 150 basesExon 36: 71,739,644–71,739,772, 129 basesExon 37: 71,740,822–71,740,950, 129 basesExon 38: 71,741,694–71,741,921, 228 basesExon 39: 71,777,680–71,777,901, 222 basesExon 40: 71,778,189–71,778,308, 120 basesExon 41: 71,779,267–71,779,447, 181 basesExon 42: 71,784,287–71,784,420, 134 basesExon 43: 71,784,891–71,785,100, 210 basesExon 44: 71,785,631–71,785,738, 108 basesExon 45: 71,788,940–71,789,042, 103 basesExon 46: 71,790,288–71,790,413, 126 basesExon 47: 71,791,132–71,791,335, 204 bases. 1 variant with a page in exon 47. List themExon 48: 71,793,182–71,793,640, 459 basesExon 49: 71,797,104–71,797,220, 117 basesExon 50: 71,798,354–71,798,578, 225 basesExon 51: 71,799,111–71,799,280, 170 basesExon 52: 71,799,492–71,799,629, 138 basesExon 53: 71,800,636–71,800,755, 120 basesExon 54: 71,802,898–71,803,075, 178 basesExon 55: 71,803,209–71,803,420, 212 basesExon 56: 71,805,806–71,805,997, 192 basesExon 57: 71,806,168–71,806,281, 114 basesExon 58: 71,807,277–71,807,406, 130 basesExon 59: 71,807,516–71,807,767, 252 basesExon 60: 71,807,846–71,808,007, 162 basesExon 61: 71,809,820–71,810,076, 257 basesExon 62: 71,810,472–71,810,569, 98 basesExon 63: 71,811,315–71,811,435, 121 basesExon 64: 71,811,511–71,811,590, 80 basesExon 65: 71,811,713–71,811,753, 41 basesExon 66: 71,811,955–71,812,015, 61 basesExon 67: 71,812,480–71,812,609, 130 basesExon 68: 71,812,768–71,812,890, 123 basesExon 69: 71,813,244–71,813,348, 105 basesExon 70: 71,814,952–71,815,947, 996 bases12550705′3′

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 11.1 kb of the gene's 419 kb; 10,065 of those bases code for the protein.

How a genome test reads CDH23

449

positions in CDH23 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 419 kb of CDH23, introns included, not only the 11.1 kb of exons.

Variants with a page (3)

The CDH23 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
D127Gc.380A>GExon 671,511,163Likely pathogenic3 stars out of 4 reviewed by expert panel
P240Lc.719C>TExon 871,570,884Pathogenic3 stars out of 4 reviewed by expert panel
R2029Wc.6085C>TExon 4771,791,167Pathogenic3 stars out of 4 reviewed by expert panel

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

APA

Dante Labs. (n.d.). CDH23 gene: cadherin related 23. Retrieved 16 October 2026, from https://dantelabs.com/genes/cdh23

Vancouver

Dante Labs. CDH23 gene: cadherin related 23 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cdh23

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test