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Variant (rsID / SNP)

rs200311463

PDE6H

rs200311463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6H. Location: chromosome 12, position 15,130,981. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDE6HConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:15130981
Cytoband
12p12.3
HGVS
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
Allele change
Nonsense_S12X

Associated conditions / phenotypes

Achromatopsia 6|Retinal cone dystrophy 3A|PDE6H-Related Disorders

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.