Variant (rsID / SNP)

rs79019225

rs79019225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1L1. Location: chromosome 8, position 10,466,161. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RP1L1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:10466161
Cytoband: 8p23.1
HGVS: NM_178857.6(RP1L1):c.5447G>A (p.Gly1816Asp)
Allele change: Missense_G1816D

Associated conditions / phenotypes

Occult macular dystrophy

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.