Variant (rsID / SNP)
rs16929375
rs16929375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSAP. Location: chromosome 10, position 73,575,550. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PSAPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73575550
- Cytoband
- 10q22.1
- HGVS
- NM_022124.6(CDH23):c.*515C>A
- Allele change
- Silent
Associated conditions / phenotypes
Atypical Gaucher Disease|Nonsyndromic Hearing Loss, Recessive|Metachromatic leukodystrophy|Encephalopathy due to prosaposin deficiency|Galactosylceramide beta-galactosidase deficiency|Retinitis pigmentosa-deafness syndrome|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.