Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs587778229

DICER1

rs587778229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,570,399. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

DICER1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:95570399
Cytoband
14q32.13
HGVS
NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp)
Allele change
Missense_N1112D

Associated conditions / phenotypes

DICER1 syndrome|Hereditary cancer-predisposing syndrome

Public references

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