Variant (rsID / SNP)
rs61754966
rs61754966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,990,521. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NBNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:90990521
- Cytoband
- 8q21.3
- HGVS
- NM_002485.5(NBN):c.511A>G (p.Ile171Val)
- Allele change
- Missense_I89V
Associated conditions / phenotypes
Aplastic anemia|Leukemia, acute lymphoblastic, susceptibility to|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Hereditary breast ovarian cancer syndrome|Breast carcinoma|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.