Variant (rsID / SNP)
rs41293459
rs41293459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,215,947. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41215947
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Neoplasm of ovary|Familial cancer of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.