Variant (rsID / SNP)

rs796051861

rs796051861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,269,882. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDH23Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 10:73269882
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.193del (p.Leu65fs)

Associated conditions / phenotypes

Usher syndrome type 1D|USHER SYNDROME, TYPE ID/F, DIGENIC|Usher syndrome type 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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