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Variant (rsID / SNP)

rs61754967

NBN

rs61754967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,982,730. 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
8:90982730
Cytoband
8q21.3
HGVS
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
Allele change
Missense_T171I

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.