Variant (rsID / SNP)

rs769420

rs769420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,982,691. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NBNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:90982691
Cytoband: 8q21.3
HGVS: NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
Allele change: Missense_P184L

Associated conditions / phenotypes

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