Variant (rsID / SNP)
rs140884994
rs140884994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23. Location: chromosome 10, position 73,572,538. Clinical significance in the table: Uncertain significance.
Reference-table entries
CDH23Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73572538
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
- Allele change
- Missense_R3175H
Associated conditions / phenotypes
Inborn genetic diseases|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Pituitary adenoma 5, multiple types|Usher syndrome type 1|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.