Variant (rsID / SNP)

rs79826315

rs79826315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6B. Location: chromosome 4, position 619,560. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDE6BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:619560
Cytoband: 4p16.3
HGVS: NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)
Allele change: Missense_D49Y

Associated conditions / phenotypes

Congenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa

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.