Variant (rsID / SNP)
rs61755806
rs61755806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH2. Location: chromosome 6, position 42,672,284. Clinical significance in the table: Pathogenic.
Reference-table entries
PRPH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:42672284
- Cytoband
- 6p21.1
- HGVS
- NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
- Allele change
- Missense_P216L
Associated conditions / phenotypes
Retinitis pigmentosa 7|Retinitis pigmentosa|PRPH2-Related Disorders|Retinal dystrophy|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.