Variant (rsID / SNP)
rs181255269
rs181255269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,453,990. Clinical significance in the table: Benign.
Reference-table entries
CDH23Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73453990
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
- Allele change
- Missense_H755Y
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Retinitis pigmentosa|Retinitis pigmentosa-deafness syndrome|Non-Syndromic Hereditary Hearing Impairment|Nonsyndromic genetic hearing loss|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.