Variant (rsID / SNP)

rs139409005

rs139409005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,556,957. 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: 10:73556957
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.6809G>A (p.Arg2270His)
Allele change: Missense_R2270H

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.