Variant (rsID / SNP)

rs139287714

rs139287714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,406,226. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDH23Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:73406226
Cytoband: 10q22.1
HGVS: NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
Allele change: Missense_N434S

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.