Variant (rsID / SNP)
rs767215758
rs767215758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,971,047. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NBNPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:90971047
- Cytoband
- 8q21.3
- HGVS
- NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
- Allele change
- Nonsense_Q262X
Associated conditions / phenotypes
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Acute lymphoid leukemia|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.