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Variant (rsID / SNP)

rs869025262

DICER1

rs869025262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,577,719. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DICER1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:95577719
Cytoband
14q32.13
HGVS
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys)
Allele change
Missense_E731K

Associated conditions / phenotypes

Anophthalmia-microphthalmia syndrome|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.