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Variant (rsID / SNP)

rs189119295

DICER1

rs189119295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,562,438. 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
14:95562438
Cytoband
14q32.13
HGVS
NM_177438.3(DICER1):c.4819C>T (p.Arg1607Trp)
Allele change
Missense_R1607W

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.