Variant (rsID / SNP)

rs1060502601

rs1060502601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD51C. Location: chromosome 17, position 56,787,245. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RAD51CPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 17:56787245
Cytoband: 17q22
HGVS: NM_058216.3(RAD51C):c.732del (p.Ile244fs)

Associated conditions / phenotypes

Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3|Fanconi anemia complementation group O|Hereditary breast ovarian cancer syndrome|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.