Variant (rsID / SNP)
rs587781891
rs587781891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,994,998. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NBNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 8:90994998
- Cytoband
- 8q21.3
- HGVS
- NM_002485.5(NBN):c.123del (p.Ser42fs)
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.