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Variant (rsID / SNP)

rs144562730

PDE6B

rs144562730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6B. Location: chromosome 4, position 647,723. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDE6BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:647723
Cytoband
4p16.3
HGVS
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
Allele change
Missense_R265Q

Associated conditions / phenotypes

Congenital stationary night blindness autosomal dominant 2|Retinitis pigmentosa

Public references

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