Variant (rsID / SNP)

rs121918567

rs121918567 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH2. Location: chromosome 6, position 42,672,347. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRPH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:42672347
Cytoband: 6p21.1
HGVS: NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
Allele change: Missense_R195L

Associated conditions / phenotypes

Choroidal dystrophy, central areolar 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.