Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs202052174

CDH23

rs202052174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,563,128. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CDH23Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:73563128
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
Allele change
Missense_R2608H

Associated conditions / phenotypes

CDH23-Related Disorders|Retinitis pigmentosa-deafness syndrome|Neurodevelopmental abnormality|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.