Variant (rsID / SNP)

rs78338185

rs78338185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SAG. Location: chromosome 2, position 234,255,647. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SAGBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:234255647
Cytoband: 2q37.1
HGVS: NM_000541.5(SAG):c.*89C>T
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa|Oguchi disease

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.