Variant (rsID / SNP)

rs121908353

rs121908353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,572,579. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CDH23Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:73572579
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
Allele change: Missense_R3189W

Associated conditions / phenotypes

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

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.