Variant (rsID / SNP)
rs111033270
rs111033270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,539,073. Clinical significance in the table: Pathogenic.
Reference-table entries
CDH23Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73539073
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
- Allele change
- Missense_R1746Q
Associated conditions / phenotypes
Usher syndrome type 1D|CDH23-Related Disorders|Pituitary adenoma 5, multiple types|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Rare genetic deafness|Retinal dystrophy|Usher syndrome type 1|Childhood onset hearing loss|Usher syndrome|Autosomal recessive nonsyndromic hearing loss 12
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.