Variant (rsID / SNP)
rs16941
rs16941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,244,435. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:41244435
- Cytoband
- 17q21.31
- HGVS
- NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
- Allele change
- Silent
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Pancreatic cancer, susceptibility to, 4|Familial cancer of breast|Fanconi anemia, complementation group S|Breast carcinoma|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.