Variant (rsID / SNP)

rs1553114

rs1553114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE4D. Location: chromosome 5, position 58,286,625. Clinical significance in the table: Benign.

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Reference-table entries

PDE4DBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:58286625
Cytoband: 5q11.2
HGVS: NM_001104631.2(PDE4D):c.1287+6G>A
Allele change: Silent

Associated conditions / phenotypes

Acrodysostosis 2 with or without hormone resistance

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.