Variant (rsID / SNP)

rs142876079

rs142876079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6C. Location: chromosome 10, position 95,422,920. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDE6CConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:95422920
Cytoband: 10q23.33
HGVS: NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg)
Allele change: Missense_G835R

Associated conditions / phenotypes

Cone dystrophy 4|Achromatopsia

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.