Variant (rsID / SNP)

rs4840502

rs4840502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1L1. Location: chromosome 8, position 10,468,172. 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: 8:10468172
Cytoband: 8p23.1
HGVS: NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp)
Allele change: Missense_R1146W

Associated conditions / phenotypes

Occult macular dystrophy|Retinitis pigmentosa 88

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.