Variant (rsID / SNP)

rs864622626

rs864622626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,596,479. 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: 14:95596479
Cytoband: 14q32.13
HGVS: NM_177438.3(DICER1):c.489C>G (p.Tyr163Ter)
Allele change: Nonsense_Y163X

Associated conditions / phenotypes

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.