Variant (rsID / SNP)

rs137853290

rs137853290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RLBP1. Location: chromosome 15, position 89,758,364. Clinical significance in the table: Pathogenic.

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Reference-table entries

RLBP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:89758364
Cytoband: 15q26.1
HGVS: NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)
Allele change: Missense_R151Q

Associated conditions / phenotypes

Pigmentary retinal dystrophy|Retinitis punctata albescens|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.