Variant (rsID / SNP)

rs116476753

rs116476753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIMS1. Location: chromosome 6, position 72,889,549. Clinical significance in the table: Benign.

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Reference-table entries

RIMS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:72889549
Cytoband: 6q13
HGVS: NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu)
Allele change: Missense_S248L

Associated conditions / phenotypes

Cone-rod dystrophy 7

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.