Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs878855246

DICER1

rs878855246 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,579,443. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DICER1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:95579443
Cytoband
14q32.13
HGVS
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
Allele change
Nonsense_R676X

Associated conditions / phenotypes

DICER1 syndrome|Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Pleuropulmonary blastoma

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.