Variant (rsID / SNP)

rs79705488

rs79705488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,466,710. Clinical significance in the table: Likely benign.

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Reference-table entries

CDH23Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:73466710
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.3010G>A (p.Val1004Met)
Allele change: Missense_V1004M

Associated conditions / phenotypes

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.