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Variant (rsID / SNP)

rs139444207

PDE6A

rs139444207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,274,769. 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
5:149274769
Cytoband
5q32
HGVS
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
Allele change
Missense_Q569K

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 43

Public references

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