Variant (rsID / SNP)

rs121908449

rs121908449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RGS9. Location: chromosome 17, position 63,193,278. Clinical significance in the table: Pathogenic.

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Reference-table entries

RGS9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:63193278
Cytoband: 17q24.1
HGVS: NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
Allele change: Missense_W296R

Associated conditions / phenotypes

Bradyopsia|Leber congenital amaurosis

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.