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Variant (rsID / SNP)

rs397517329

CDH23

rs397517329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,498,354. 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
10:73498354
Cytoband
10q22.1
HGVS
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
Allele change
Nonsense_R1437X

Associated conditions / phenotypes

Rare genetic deafness|Usher syndrome type 1D|Pituitary adenoma 5, multiple types|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.