Variant (rsID / SNP)

rs181611778

rs181611778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,538,009. 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: 10:73538009
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
Allele change: Missense_V1711I

Associated conditions / phenotypes

Usher syndrome|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D

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.