Variant (rsID / SNP)

rs137852976

rs137852976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,562,509. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DICER1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:95562509
Cytoband: 14q32.13
HGVS: NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)
Allele change: Missense_L1583R

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.