Variant (rsID / SNP)

rs397517327

rs397517327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,490,352. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDH23Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:73490352
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)
Allele change: Nonsense_R1236X

Associated conditions / phenotypes

Rare genetic deafness

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.