Variant (rsID / SNP)
rs137853006
rs137853006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 16,014,922. Clinical significance in the table: Pathogenic.
Reference-table entries
PROM1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:16014922
- Cytoband
- 4p15.32
- HGVS
- NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
- Allele change
- Missense_R373C
Associated conditions / phenotypes
Stargardt disease 4|Retinal macular dystrophy type 2|Cone-rod dystrophy 12|Retinal dystrophy|Macular dystrophy|Stargardt disease|Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.