Variant (rsID / SNP)
rs148475933
rs148475933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDH23, PSAP. Location: chromosome 10, position 73,574,953. 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
- 10:73574953
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
- Allele change
- Missense_R3328H
Associated conditions / phenotypes
Atypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Galactosylceramide beta-galactosidase deficiency|Metachromatic leukodystrophy|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|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.