Variant (rsID / SNP)

rs185493105

rs185493105 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,993,621. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NBNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:90993621
Cytoband: 8q21.3
HGVS: NM_002485.5(NBN):c.302T>C (p.Val101Ala)
Allele change: Missense_V19A

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.