Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs56043301

CDH23

rs56043301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,537,617. 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
10:73537617
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)
Allele change
Missense_A1676T

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.