Variant (rsID / SNP)
rs1801499
rs1801499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,910,721. Clinical significance in the table: Benign.
Reference-table entries
BRCA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32910721
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.2229T>C (p.His743=)
- Allele change
- Synonymous_H743H
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group D1|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|8 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.