Variant (rsID / SNP)
rs61755770
rs61755770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH2. Location: chromosome 6, position 42,689,940. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PRPH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:42689940
- Cytoband
- 6p21.1
- HGVS
- NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
- Allele change
- Missense_L45F
Associated conditions / phenotypes
Patterned macular dystrophy 1|PRPH2-Related Disorders|Pigmentary retinal dystrophy|Retinitis pigmentosa|Choroidal dystrophy, central areolar 2|Adult-onset foveomacular vitelliform dystrophy|Cone-rod dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.