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Variant (rsID / SNP)

rs115857633

SAG

rs115857633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SAG. Location: chromosome 2, position 234,229,344. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SAGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:234229344
Cytoband
2q37.1
HGVS
NM_000541.5(SAG):c.250C>T (p.Arg84Cys)
Allele change
Missense_R84C

Associated conditions / phenotypes

Oguchi disease|Retinitis pigmentosa

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.