Variant (rsID / SNP)

rs121908973

rs121908973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,976,656. Clinical significance in the table: Pathogenic.

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Reference-table entries

NBNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:90976656
Cytoband: 8q21.3
HGVS: NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
Allele change: Nonsense_Q244X

Associated conditions / phenotypes

Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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