Variant (rsID / SNP)
rs140872693
rs140872693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROM1. Location: chromosome 4, position 16,026,841. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PROM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:16026841
- Cytoband
- 4p15.32
- HGVS
- NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
- Allele change
- Missense_R202G
Associated conditions / phenotypes
Cone-rod dystrophy 12|Retinal macular dystrophy type 2|Stargardt disease 4|Retinitis pigmentosa|Retinal macular dystrophy type 2|Stargardt disease 4|Cone-rod dystrophy 12|Retinitis pigmentosa 41|Retinitis pigmentosa 41|Autosomal recessive retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.