Variant (rsID / SNP)
rs104894470
rs104894470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH12. Location: chromosome 14, position 68,193,814. Clinical significance in the table: Pathogenic.
Reference-table entries
RDH12Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:68193814
- Cytoband
- 14q24.1
- HGVS
- NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)
- Allele change
- Nonsense_Q189X
Associated conditions / phenotypes
Leber congenital amaurosis 13
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.