Variant (rsID / SNP)

rs147047715

rs147047715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,264,133. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDE6AConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:149264133
Cytoband: 5q32
HGVS: NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)
Allele change: Missense_I646V

Associated conditions / phenotypes

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.