Variant (rsID / SNP)

rs111033493

rs111033493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,553,174. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDH23Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:73553174
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
Allele change: Synonymous_L2163L

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.