Variant (rsID / SNP)
rs189358082
rs189358082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH2. Location: chromosome 6, position 42,672,130. 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
- 6:42672130
- Cytoband
- 6p21.1
- HGVS
- NM_000322.5(PRPH2):c.801C>T (p.Val267=)
- Allele change
- Synonymous_V267V
Associated conditions / phenotypes
Retinitis pigmentosa|Pigmentary retinal dystrophy|Patterned macular dystrophy 1|Choroidal dystrophy, central areolar 2|Cone-rod dystrophy|Adult-onset foveomacular vitelliform dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.