Variant (rsID / SNP)

rs137852979

rs137852979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,582,912. Clinical significance in the table: Pathogenic.

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Reference-table entries

DICER1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:95582912
Cytoband: 14q32.13
HGVS: NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)
Allele change: Nonsense_R544X

Associated conditions / phenotypes

Pleuropulmonary blastoma|DICER1 syndrome

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.