Variant (rsID / SNP)

rs185749010

rs185749010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1L1. Location: chromosome 8, position 10,480,635. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RP1L1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:10480635
Cytoband: 8p23.1
HGVS: NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu)
Allele change: Missense_S26L

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.