Variant (rsID / SNP)
rs111033271
rs111033271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,553,127. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CDH23Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73553127
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
- Allele change
- Missense_D2148N
Associated conditions / phenotypes
Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 2A|Usher syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.