Variant (rsID / SNP)

rs111033473

rs111033473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,553,096. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CDH23Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 10:73553096
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.6412del (p.Glu2138fs)

Associated conditions / phenotypes

Rare genetic deafness

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.