Variant (rsID / SNP)

rs397507178

rs397507178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,931,450. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAD50Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 5:131931450
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.2165dup (p.Glu723fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder|Breast and/or ovarian cancer

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.