Variant (rsID / SNP)
rs367928692
rs367928692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,550,880. Clinical significance in the table: Pathogenic.
Reference-table entries
CDH23Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73550880
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.6050-9G>A
- Allele change
- Silent
Associated conditions / phenotypes
Rare genetic deafness|Pituitary adenoma 5, multiple types|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1|Hearing loss, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.