Variant (rsID / SNP)

rs56125934

rs56125934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6G. Location: chromosome 17, position 79,623,591. Clinical significance in the table: Likely benign.

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Reference-table entries

PDE6GLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:79623591
Cytoband: 17q25.3
HGVS: NM_002602.3(PDE6G):c.-128G>A
Allele change: Silent

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive

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.