Variant (rsID / SNP)
rs45583140
rs45583140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23, PSAP. Location: chromosome 10, position 73,571,765. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CDH23Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73571765
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
- Allele change
- Missense_F3125L
Associated conditions / phenotypes
Encephalopathy due to prosaposin deficiency|Nonsyndromic Hearing Loss, Recessive|Galactosylceramide beta-galactosidase deficiency|Metachromatic leukodystrophy|Retinitis pigmentosa-deafness syndrome|Atypical Gaucher Disease|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|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.