Variant (rsID / SNP)

rs13312984

rs13312984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN, OSGIN2. Location: chromosome 8, position 90,946,797. Clinical significance in the table: Benign.

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Reference-table entries

NBNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:90946797
Cytoband: 8q21.3
HGVS: NM_002485.5(NBN):c.*1013G>A
Allele change: Silent

Associated conditions / phenotypes

Microcephaly, normal intelligence and immunodeficiency

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.