Variant (rsID / SNP)

rs1060502426

rs1060502426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,912,765. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRCA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 13:32912765
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.4273del (p.Asp1425fs)

Associated conditions / phenotypes

Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2

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.