Variant (rsID / SNP)
rs61755783
rs61755783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH2. Location: chromosome 6, position 42,689,649. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PRPH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:42689649
- Cytoband
- 6p21.1
- HGVS
- NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
- Allele change
- Missense_R142W
Associated conditions / phenotypes
Choroidal dystrophy, central areolar 2|Cone dystrophy|Progressive cone dystrophy (without rod involvement)|PRPH2-Related Disorders|maculopathy|Retinal dystrophy|Stargardt disease|Retinitis pigmentosa|Patterned macular dystrophy 1|Patterned dystrophy of the retinal pigment epithelium
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.