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Variant (rsID / SNP)

rs188985665

PDE11A

rs188985665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE11A. Location: chromosome 2, position 178,879,115. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDE11AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:178879115
Cytoband
2q31.2
HGVS
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
Allele change
Nonsense_R79X

Associated conditions / phenotypes

Pigmented nodular adrenocortical disease, primary, 2

Public references

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