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Variant (rsID / SNP)

rs181018393

DICER1

rs181018393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,562,455. 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
14:95562455
Cytoband
14q32.13
HGVS
NM_177438.3(DICER1):c.4802A>T (p.Lys1601Met)
Allele change
Missense_K1601M

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.