Variant (rsID / SNP)

rs616522

rs616522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6C. Location: chromosome 10, position 95,395,247. Clinical significance in the table: Benign.

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Reference-table entries

PDE6CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:95395247
Cytoband: 10q23.33
HGVS: NM_006204.4(PDE6C):c.1270-7A>G
Allele change: Silent

Associated conditions / phenotypes

Achromatopsia|Cone dystrophy 4

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.