Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs886063169

NBN

rs886063169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,967,525. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NBNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:90967525
Cytoband
8q21.3
HGVS
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
Allele change
Synonymous_P379P

Associated conditions / phenotypes

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

Public references

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