Variant (rsID / SNP)
rs760650165
rs760650165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RLBP1. Location: chromosome 15, position 89,761,794. 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
- 15:89761794
- Cytoband
- 15q26.1
- HGVS
- NM_000326.5(RLBP1):c.141+2T>C
- Allele change
- Silent
Associated conditions / phenotypes
RLBP1-Related Disorders|Newfoundland cone-rod dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.