Variant (rsID / SNP)

rs55708318

rs55708318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 15,994,019. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PROM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:15994019
Cytoband: 4p15.32
HGVS: NM_006017.3(PROM1):c.1768-5C>T
Allele change: Silent

Associated conditions / phenotypes

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

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.