Variant (rsID / SNP)
rs3130
rs3130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 15,969,938. Clinical significance in the table: Benign.
Reference-table entries
PROM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:15969938
- Cytoband
- 4p15.32
- HGVS
- NM_006017.3(PROM1):c.*1078A>G
- Allele change
- Silent
Associated conditions / phenotypes
Stargardt disease 4|Retinitis pigmentosa|Cone-rod dystrophy 12|Retinal macular dystrophy type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.