Variant (rsID / SNP)

rs104894912

rs104894912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPN1LW. Clinical significance in the table: Pathogenic.

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Reference-table entries

OPN1LWPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)
Allele change: Nonsense_R247X

Associated conditions / phenotypes

Cone monochromatism

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.