Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs61732490

CDH23

rs61732490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,269,866. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CDH23Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:73269866
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)
Allele change
Missense_Q58R

Associated conditions / phenotypes

Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1

Public references

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