Variant (rsID / SNP)
rs55688530
rs55688530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,249,297. Clinical significance in the table: Benign.
Reference-table entries
BRCA1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41249297
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and/or ovarian cancer|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.