Variant (rsID / SNP)

rs2286455

rs2286455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 16,020,162. Clinical significance in the table: Benign.

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Reference-table entries

PROM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:16020162
Cytoband: 4p15.32
HGVS: NM_006017.3(PROM1):c.786G>A (p.Ala262=)
Allele change: Synonymous_A262A

Associated conditions / phenotypes

Cone-rod dystrophy 12|Retinitis pigmentosa|Retinal macular dystrophy type 2|Stargardt disease 4

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.