Variant (rsID / SNP)

rs529789124

rs529789124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE11A. Location: chromosome 2, position 178,936,994. 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: Deletion
Chromosome / position: 2:178936994
Cytoband: 2q31.2
HGVS: NM_016953.4(PDE11A):c.171del (p.Thr58fs)

Associated conditions / phenotypes

Pigmented nodular adrenocortical disease, primary, 2|Bardet-Biedl syndrome 16

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.