Variant (rsID / SNP)

rs61732059

rs61732059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6A. Location: chromosome 5, position 149,279,030. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDE6ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:149279030
Cytoband: 5q32
HGVS: NM_000440.3(PDE6A):c.1171G>A (p.Val391Met)
Allele change: Missense_V391M

Associated conditions / phenotypes

Retinitis pigmentosa 43|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.