Variant (rsID / SNP)
rs587778229
rs587778229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DICER1. Location: chromosome 14, position 95,570,399. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DICER1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:95570399
- Cytoband
- 14q32.13
- HGVS
- NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp)
- Allele change
- Missense_N1112D
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.
