Variant (rsID / SNP)

rs10999947

rs10999947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,434,906. Clinical significance in the table: Benign.

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Reference-table entries

CDH23Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:73434906
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)
Allele change: Missense_S496N

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|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.