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Variant (rsID / SNP)

rs61754796

NBN

rs61754796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,983,475. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NBNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:90983475
Cytoband
8q21.3
HGVS
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
Allele change
Missense_V128F

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|Malignant tumor of breast

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.