Variant (rsID / SNP)

rs189361642

rs189361642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,538,046. 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: 10:73538046
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.5168G>A (p.Arg1723His)
Allele change: Missense_R1723H

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.