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Variant (rsID / SNP)

rs200287925

NBN

rs200287925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,994,994. 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
8:90994994
Cytoband
8q21.3
HGVS
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
Allele change
Silent

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.