Variant (rsID / SNP)
rs121918563
rs121918563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH2. Location: chromosome 6, position 42,689,519. 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
- 6:42689519
- Cytoband
- 6p21.1
- HGVS
- NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
- Allele change
- Missense_L185P
Associated conditions / phenotypes
Retinitis pigmentosa 7, digenic|Patterned macular dystrophy 1|Leber congenital amaurosis 18|Patterned dystrophy of the retinal pigment epithelium|Retinal dystrophy|PRPH2-Related Disorders|Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.