Variant (rsID / SNP)
rs730881839
rs730881839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,982,670. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NBNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 8:90982670
- Cytoband
- 8q21.3
- HGVS
- NM_002485.5(NBN):c.817dup (p.Thr273fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.