Variant (rsID / SNP)
rs137853291
rs137853291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RLBP1. Location: chromosome 15, position 89,754,981. Clinical significance in the table: Pathogenic.
Reference-table entries
RLBP1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89754981
- Cytoband
- 15q26.1
- HGVS
- NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
- Allele change
- Missense_M226K
Associated conditions / phenotypes
Retinitis punctata albescens|RLBP1-Related Disorders|Retinitis pigmentosa|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.