Variant (rsID / SNP)

rs1057517262

rs1057517262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,949,304. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NBNLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:90949304
Cytoband: 8q21.3
HGVS: NM_002485.5(NBN):c.2185-1G>A
Allele change: Silent

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.