Variant (rsID / SNP)

rs62642544

rs62642544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6C. Location: chromosome 10, position 95,372,685. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PDE6CBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:95372685
Cytoband: 10q23.33
HGVS: NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile)
Allele change: Missense_T68I

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.