Variant (rsID / SNP)

rs730882119

rs730882119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD51D. Location: chromosome 17, position 33,434,403. Clinical significance in the table: Pathogenic.

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Reference-table entries

RAD51DPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 17:33434403
Cytoband: 17q12
HGVS: NM_002878.4(RAD51D):c.326dup (p.Gly110fs)

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 4|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.