Variant (rsID / SNP)

rs114973968

rs114973968 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,301,253. 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: 5:149301253
Cytoband: 5q32
HGVS: NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
Allele change: Missense_P293L

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.