Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs370983472

CDH23

rs370983472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,559,386. 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
10:73559386
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
Allele change
Synonymous_T2454T

Associated conditions / phenotypes

Rare genetic deafness|Usher syndrome type 1|Usher syndrome type 1D

Public references

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