Variant (rsID / SNP)

rs150752593

rs150752593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1L1. Location: chromosome 8, position 10,468,353. Clinical significance in the table: Benign.

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Reference-table entries

RP1L1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:10468353
Cytoband: 8p23.1
HGVS: NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met)
Allele change: Missense_I1085M

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.