Variant (rsID / SNP)
rs28933990
rs28933990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RLBP1. Location: chromosome 15, position 89,754,025. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RLBP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89754025
- Cytoband
- 15q26.1
- HGVS
- NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
- Allele change
- Missense_R234W
Associated conditions / phenotypes
Retinitis punctata albescens|Bothnia retinal dystrophy|RLBP1-Related Disorders|Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.